{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T12:07:33Z","timestamp":1792670853739,"version":"4.5.0"},"reference-count":104,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.fr","em-consulte.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["La Presse M\u00e9dicale"],"published-print":{"date-parts":[[2026,9]]},"DOI":"10.1016\/j.lpm.2026.104344","type":"journal-article","created":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T16:07:02Z","timestamp":1777306022000},"page":"104344","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"title":["Oculo-Cutaneous and syndromic albinisms: Epidemiology, clinical spectrum and diagnosis"],"prefix":"10.1016","volume":"55","author":[{"given":"Ester","family":"Moreno-Artero","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacob","family":"Mashiah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"7","key":"10.1016\/j.lpm.2026.104344_bib0001","doi-asserted-by":"crossref","first-page":"1449","DOI":"10.1111\/jdv.17275","article-title":"Management of albinism: French guidelines for diagnosis and care","volume":"35","author":"Moreno-Artero","year":"2021","journal-title":"J Eur Acad Dermatol Venereol."},{"key":"10.1016\/j.lpm.2026.104344_bib0002","doi-asserted-by":"crossref","first-page":"1449","DOI":"10.1016\/j.jid.2019.12.010","article-title":"Albinism: an undCE: Current document is not matching with source document and no style info found.erdiagnosed condition","volume":"140","author":"Arveiler","year":"2019","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.lpm.2026.104344_bib0003","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.jaapos.2010.10.012","article-title":"Albinism for the busy clinician","volume":"15","author":"Levin","year":"2011","journal-title":"J AAPOS"},{"key":"10.1016\/j.lpm.2026.104344_bib0004","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1111\/j.1755-148X.2008.00496.x","article-title":"Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects: Letter to the Editor","volume":"21","author":"Rooryck","year":"2008","journal-title":"Pigment Cell Melanoma Res"},{"key":"10.1016\/j.lpm.2026.104344_bib0005","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/S0151-9638(07)89250-7","article-title":"Albinisme oculo-cutane","volume":"134","author":"Rooryck","year":"2007","journal-title":"Ann Dermatol Venereologie"},{"key":"10.1016\/j.lpm.2026.104344_bib0006","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1186\/1750-1172-2-43","article-title":"Oculocutaneous albinism","volume":"2","author":"Gr\u00f8nskov","year":"2007","journal-title":"Orphanet J Rare Dis"},{"issue":"4","key":"10.1016\/j.lpm.2026.104344_bib0007","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1111\/pcmr.12688","article-title":"Molecular characterization of a series of 990 index patients with albinism","volume":"31","author":"Lasseaux","year":"2018","journal-title":"Pigment Cell Melanoma Res."},{"key":"10.1016\/j.lpm.2026.104344_bib0008","first-page":"1","article-title":"Mutational analysis of oculocutaneous albinism: a compact review","volume":"2014","author":"Kamaraj","year":"2014","journal-title":"BioMed Res Int"},{"key":"10.1016\/j.lpm.2026.104344_bib0009","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1111\/cge.12019","article-title":"OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24","volume":"84","author":"Kausar","year":"2013","journal-title":"Clin Genet"},{"key":"10.1016\/j.lpm.2026.104344_bib0010","doi-asserted-by":"crossref","first-page":"1834","DOI":"10.1038\/jid.2013.49","article-title":"Exome sequencing identifies SLC24A5 as a candidate gene for non syndromic oculocutaneous albinism","volume":"133","author":"Wei","year":"2013","journal-title":"J Invest Dermatol"},{"key":"10.1016\/j.lpm.2026.104344_bib0011","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1016\/j.ajhg.2013.01.006","article-title":"Mutations in C10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism","volume":"92","author":"Gr\u00f8nskov","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.lpm.2026.104344_bib0012","doi-asserted-by":"crossref","first-page":"1281","DOI":"10.1167\/iovs.10-6091","article-title":"Molecular and clinical characterization of albinism in a large cohort of Italian patients","volume":"52","author":"Gargiulo","year":"2011","journal-title":"Investig Opthalmol Vis Sci"},{"issue":"1","key":"10.1016\/j.lpm.2026.104344_bib0013","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1007\/s00439-022-02489-y","article-title":"PMEL is mutated in oculocutaneous albinism","volume":"142","author":"AlAbdi","year":"2023","journal-title":"Hum Genet."},{"issue":"2","key":"10.1016\/j.lpm.2026.104344_bib0014","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1007\/s00403-022-02335-1","article-title":"Oculocutaneous albinism: epidemiology, genetics, skin manifestation, and psychosocial issues","volume":"315","author":"Ma","year":"2023","journal-title":"Arch Dermatol Res."},{"issue":"10","key":"10.1016\/j.lpm.2026.104344_bib0015","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1167\/iovs.64.10.14","article-title":"Determining a Worldwide Prevalence of Oculocutaneous Albinism: A Systematic Review","volume":"64","author":"Kromberg","year":"2023","journal-title":"Invest Ophthalmol Vis Sci."},{"issue":"8","key":"10.1016\/j.lpm.2026.104344_bib0016","doi-asserted-by":"crossref","first-page":"1522","DOI":"10.3390\/cancers16081522","article-title":"What Have We Learned about the Prevention of NMSC from Albino Patients from Malawi? Secondary Prevention Maintained over Time","volume":"16","author":"Tom\u00e1s-Vel\u00e1zquez","year":"2024","journal-title":"Cancers (Basel)."},{"issue":"4","key":"10.1016\/j.lpm.2026.104344_bib0017","doi-asserted-by":"crossref","first-page":"255","DOI":"10.3109\/13816819009015711","article-title":"Oculocutaneous albinism in Cameroon. A 15-year follow-up study","volume":"11","author":"Aquaron","year":"1990","journal-title":"Ophthalmic Paediatr Genet."},{"issue":"4","key":"10.1016\/j.lpm.2026.104344_bib0018","doi-asserted-by":"crossref","first-page":"14","DOI":"10.5070\/D37XJ545JX","article-title":"Letter: Skin cancer in albinos at the University of Calabar Teaching Hospital, Calabar, Nigeria","volume":"16","author":"Asuquo","year":"2010","journal-title":"Dermatol Online J."},{"issue":"10","key":"10.1016\/j.lpm.2026.104344_bib0019","doi-asserted-by":"crossref","first-page":"22","DOI":"10.5070\/D36CJ1P1XN","article-title":"Squamous-cell carcinoma in situ in a patient with oculocutaneous albinism","volume":"17","author":"Berger","year":"2011","journal-title":"Dermatol Online J."},{"issue":"5","key":"10.1016\/j.lpm.2026.104344_bib0020","first-page":"E1","article-title":"Oculocutaneous albinism","volume":"91","author":"David","year":"2013","journal-title":"Cutis."},{"key":"10.1016\/j.lpm.2026.104344_bib0021","doi-asserted-by":"crossref","DOI":"10.1155\/2015\/167847","article-title":"Oculocutaneous Albinism and Squamous Cell Carcinoma of the Skin of the Head and Neck in Sub-Saharan Africa","volume":"2015","author":"Lekalakala","year":"2015","journal-title":"J Skin Cancer."},{"issue":"4","key":"10.1016\/j.lpm.2026.104344_bib0022","first-page":"122","article-title":"Locally advanced skin cancer in an albino: a treatment dilemma","volume":"22","author":"Mapurisa","year":"2010","journal-title":"Malawi Med J."},{"issue":"1","key":"10.1016\/j.lpm.2026.104344_bib0023","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1590\/1806-9282.67.01.20200356","article-title":"Prevalence of premalignant and malignant skin lesions in oculocutaneous albinism patients","volume":"67","author":"Ramos","year":"2021","journal-title":"Rev Assoc Med Bras (1992)"},{"issue":"3","key":"10.1016\/j.lpm.2026.104344_bib0024","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1159\/000502034","article-title":"Dermatological and Epidemiological Profiles of Patients with Albinism in S\u00e3o Paulo, Brazil, between 2010 and 2017: A Cross-Sectional Study","volume":"236","author":"Mar\u00e7on","year":"2020","journal-title":"Dermatology."},{"issue":"2","key":"10.1016\/j.lpm.2026.104344_bib0025","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1111\/1346-8138.13462","article-title":"Case of Japanese Hermansky-Pudlak syndrome patient with deeply invasive squamous cell carcinoma and multiple lesions of actinic keratosis on the face and neck","volume":"44","author":"Iwata","year":"2017","journal-title":"J Dermatol."},{"key":"10.1016\/j.lpm.2026.104344_bib0026","doi-asserted-by":"crossref","DOI":"10.1136\/bcr-2013-203226","article-title":"Squamous cell carcinoma of external auditory canal lacking epidermal growth factor receptor protein overexpression, in an elderly Omani with oculocutaneous albinism treated with palliative radiotherapy","volume":"2014","author":"Furrukh","year":"2014","journal-title":"BMJ Case Rep."},{"issue":"6","key":"10.1016\/j.lpm.2026.104344_bib0027","doi-asserted-by":"crossref","first-page":"1251","DOI":"10.1093\/bjd\/ljaf333","article-title":"The tryptophan-serotonin axis in albinism: an interesting lead?","volume":"193","author":"Gendrot","year":"2025","journal-title":"Br J Dermatol."},{"issue":"3","key":"10.1016\/j.lpm.2026.104344_bib0028","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1086\/318800","article-title":"In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified","volume":"68","author":"Manga","year":"2001","journal-title":"Am J Hum Genet."},{"issue":"3","key":"10.1016\/j.lpm.2026.104344_bib0029","doi-asserted-by":"crossref","first-page":"638","DOI":"10.1086\/377569","article-title":"MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2)","volume":"73","author":"King","year":"2003","journal-title":"Am J Hum Genet."},{"issue":"5","key":"10.1016\/j.lpm.2026.104344_bib0030","doi-asserted-by":"crossref","first-page":"1095","DOI":"10.1086\/301603","article-title":"Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene","volume":"61","author":"Manga","year":"1997","journal-title":"Am J Hum Genet."},{"issue":"3","key":"10.1016\/j.lpm.2026.104344_bib0031","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1007\/s12013-011-9234-0","article-title":"Oculocutaneous albinism type 3 (OCA3): analysis of two novel mutations in TYRP1 gene in two Chinese patients","volume":"61","author":"Zhang","year":"2011","journal-title":"Cell Biochem Biophys."},{"issue":"6","key":"10.1016\/j.lpm.2026.104344_bib0032","first-page":"1145","article-title":"Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as \"OCA3\"","volume":"58","author":"Boissy","year":"1996","journal-title":"Am J Hum Genet."},{"issue":"12","key":"10.1016\/j.lpm.2026.104344_bib0033","doi-asserted-by":"crossref","first-page":"2198","DOI":"10.3390\/genes13122198","article-title":"Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation","volume":"13","author":"Moreno-Artero","year":"2022","journal-title":"Genes (Basel)."},{"issue":"1","key":"10.1016\/j.lpm.2026.104344_bib0034","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1111\/pcmr.12167","article-title":"Increasing the complexity: new genes and new types of albinism","volume":"27","author":"Montoliu","year":"2014","journal-title":"Pigment Cell Melanoma Res."},{"issue":"11","key":"10.1016\/j.lpm.2026.104344_bib0035","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1111\/1346-8138.15065","article-title":"Identification of two Chinese oculocutaneous albinism type 6 patients and mutation updates of the SLC24A5 gene","volume":"46","author":"Zhang","year":"2019","journal-title":"J Dermatol."},{"issue":"3","key":"10.1016\/j.lpm.2026.104344_bib0036","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1016\/j.jdermsci.2015.11.012","article-title":"Detection of the first OCA6 Italian patient in a large cohort of albino subjects","volume":"81","author":"Veniani","year":"2016","journal-title":"J Dermatol Sci."},{"issue":"1","key":"10.1016\/j.lpm.2026.104344_bib0037","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1111\/pcmr.12425","article-title":"Identification of a homozygous mutation of SLC24A5 (OCA) in two patients with oculocutaneous albinism from French Guiana","volume":"29","author":"Bertolotti","year":"2016","journal-title":"Pigment Cell Melanoma Res."},{"issue":"2","key":"10.1016\/j.lpm.2026.104344_bib0038","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1038\/jid.2013.360","article-title":"SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism","volume":"134","author":"Morice-Picard","year":"2014","journal-title":"J Invest Dermatol."},{"issue":"3","key":"10.1016\/j.lpm.2026.104344_bib0039","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1111\/cge.13655","article-title":"Clinical variability and probable founder effect in oculocutaneous albinism type 7","volume":"97","author":"Bataille","year":"2020","journal-title":"Clin Genet"},{"issue":"3","key":"10.1016\/j.lpm.2026.104344_bib0040","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1038\/s41436-020-00997-8","article-title":"Dopachrome tautomerase variants in patients with oculocutaneous albinism","volume":"23","author":"Pennamen","year":"2021","journal-title":"Genet Med."},{"issue":"2","key":"10.1016\/j.lpm.2026.104344_bib0041","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1167\/iovs.66.2.44","article-title":"Chiasmal Decussation in Oculo-Cutaneous Albinism Type 8","volume":"66","author":"Rateaux","year":"2025","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"7","key":"10.1016\/j.lpm.2026.104344_bib0042","doi-asserted-by":"crossref","first-page":"1164","DOI":"10.3390\/genes13071164","article-title":"The Dct-\/- mouse model to unravel retinogenesis misregulation in patients with albinism","volume":"13","author":"Tingaud-Sequeira","year":"2022","journal-title":"Genes (Basel)"},{"issue":"2","key":"10.1016\/j.lpm.2026.104344_bib0043","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1055\/s-0040-1708088","article-title":"Hermansky-Pudlak Syndrome","volume":"41","author":"De Jesus Rojas","year":"2020","journal-title":"Semin Respir Crit Care Med."},{"issue":"18","key":"10.1016\/j.lpm.2026.104344_bib0044","doi-asserted-by":"crossref","first-page":"1258","DOI":"10.1056\/NEJM199804303381803","article-title":"Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome)","volume":"338","author":"Gahl","year":"1998","journal-title":"N Engl J Med"},{"issue":"3","key":"10.1016\/j.lpm.2026.104344_bib0045","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1016\/0002-9343(87)90446-3","article-title":"Elevated urinary dolichol excretion in the Hermansky-Pudlak syndrome. Indicator of lysosomal dysfunction","volume":"82","author":"Witkop","year":"1987","journal-title":"Am J Med."},{"issue":"02","key":"10.1016\/j.lpm.2026.104344_bib0046","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1182\/blood.V14.2.162.162","article-title":"Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies","volume":"14","author":"Hermansky","year":"1959","journal-title":"Blood"},{"issue":"3","key":"10.1016\/j.lpm.2026.104344_bib0047","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1002\/humu.23968","article-title":"Hermansky-Pudlak syndrome: Mutation update","volume":"41","author":"Huizing","year":"2020","journal-title":"Hum Mutat."},{"issue":"07","key":"10.1016\/j.lpm.2026.104344_bib0048","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1111\/j.1600-0854.2005.00299.x","article-title":"The cell biology of Hermansky-Pudlak syndrome: recent advances","volume":"6","author":"Di Pietro","year":"2005","journal-title":"Traffic"},{"issue":"10","key":"10.1016\/j.lpm.2026.104344_bib0049","doi-asserted-by":"crossref","first-page":"1613","DOI":"10.1038\/s41436-020-0867-5","article-title":"BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome","volume":"22","author":"Pennamen","year":"2020","journal-title":"Genet Med."},{"issue":"4","key":"10.1016\/j.lpm.2026.104344_bib0050","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1038\/ng576","article-title":"Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico","volume":"28","author":"Anikster","year":"2001","journal-title":"Nat Genet."},{"issue":"1","key":"10.1016\/j.lpm.2026.104344_bib0051","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1186\/s13023-022-02464-w","article-title":"Dermatologic manifestations in patients with the Hermansky-Pudlak syndrome types 1 and 3","volume":"17","author":"Santos Malave","year":"2022","journal-title":"Orphanet J Rare Dis."},{"issue":"1","key":"10.1016\/j.lpm.2026.104344_bib0052","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1542\/peds.2012-4003","article-title":"Hermansky-Pudlak syndrome: health care throughout life","volume":"132","author":"Seward","year":"2013","journal-title":"Pediatrics."},{"issue":"5","key":"10.1016\/j.lpm.2026.104344_bib0053","doi-asserted-by":"crossref","first-page":"1088","DOI":"10.1086\/301611","article-title":"Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome","volume":"61","author":"Hazelwood","year":"1997","journal-title":"Am J Hum Genet."},{"issue":"4","key":"10.1016\/j.lpm.2026.104344_bib0054","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1016\/S0161-6420(99)00150-5","article-title":"Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism","volume":"107","author":"Iwata","year":"2000","journal-title":"Ophthalmology."},{"issue":"5","key":"10.1016\/j.lpm.2026.104344_bib0055","doi-asserted-by":"crossref","first-page":"1022","DOI":"10.1086\/324168","article-title":"Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency","volume":"69","author":"Huizing","year":"2001","journal-title":"Am J Hum Genet."},{"issue":"1","key":"10.1016\/j.lpm.2026.104344_bib0056","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1080\/09537104.2017.1361019","article-title":"Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype","volume":"29","author":"Botero","year":"2018","journal-title":"Platelets."},{"issue":"2","key":"10.1016\/j.lpm.2026.104344_bib0057","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1016\/j.survophthal.2020.10.007","article-title":"Current and emerging treatments for albinism","volume":"66","author":"Liu","year":"2021","journal-title":"Surv Ophthalmol."},{"issue":"4","key":"10.1016\/j.lpm.2026.104344_bib0058","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1016\/j.ymgme.2017.02.007","article-title":"Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS","volume":"120","author":"Bryan","year":"2017","journal-title":"Mol Genet Metab."},{"issue":"4","key":"10.1016\/j.lpm.2026.104344_bib0059","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1016\/j.jaci.2007.08.039","article-title":"Novel insights from adaptor protein 3 complex deficiency","volume":"120","author":"Badolato","year":"2007","journal-title":"J Allergy Clin Immunol."},{"issue":"11","key":"10.1016\/j.lpm.2026.104344_bib0060","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2018.11.017","article-title":"Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder","volume":"62","author":"Mohammed","year":"2019","journal-title":"Eur J Med Genet."},{"issue":"7","key":"10.1016\/j.lpm.2026.104344_bib0061","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1001\/archderm.135.7.774","article-title":"Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene","volume":"135","author":"Toro","year":"1999","journal-title":"Arch Dermatol."},{"key":"10.1016\/j.lpm.2026.104344_bib0062","doi-asserted-by":"crossref","DOI":"10.1136\/bcr-2017-223376","article-title":"Living donor renal transplant in a patient with end-stage renal disease due to Hermansky-Pudlak syndrome","volume":"2018","author":"Abdullah","year":"2018","journal-title":"BMJ Case Rep."},{"issue":"1","key":"10.1016\/j.lpm.2026.104344_bib0063","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1111\/joim.13224","article-title":"Inflammatory bowel disease in Hermansky-Pudlak syndrome: a retrospective single-centre cohort study","volume":"290","author":"O'Brien","year":"2021","journal-title":"J Intern Med."},{"issue":"1","key":"10.1016\/j.lpm.2026.104344_bib0064","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1186\/s13023-018-0780-z","article-title":"Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood","volume":"13","author":"Hengst","year":"2018","journal-title":"Orphanet J Rare Dis."},{"issue":"159","key":"10.1016\/j.lpm.2026.104344_bib0065","doi-asserted-by":"crossref","DOI":"10.1183\/16000617.0193-2020","article-title":"Hermansky-Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease","volume":"30","author":"Yokoyama","year":"2021","journal-title":"Eur Respir Rev."},{"issue":"1","key":"10.1016\/j.lpm.2026.104344_bib0066","doi-asserted-by":"crossref","first-page":"56","DOI":"10.2119\/molmed.2011.00198","article-title":"Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease","volume":"18","author":"Gochuico","year":"2012","journal-title":"Mol Med."},{"key":"10.1016\/j.lpm.2026.104344_bib0067","doi-asserted-by":"crossref","first-page":"997","DOI":"10.1182\/blood-2015-09-671636","article-title":"Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome","volume":"127","author":"Ammann","year":"2016","journal-title":"Blood"},{"issue":"4","key":"10.1016\/j.lpm.2026.104344_bib0068","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1097\/MOH.0000000000000766","article-title":"Chediak-Higashi syndrome","volume":"30","author":"Talbert","year":"2023","journal-title":"Curr Opin Hematol"},{"issue":"11","key":"10.1016\/j.lpm.2026.104344_bib0069","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1038\/ni1000","article-title":"Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse","volume":"4","author":"Clark","year":"2003","journal-title":"Nat Immunol."},{"issue":"2","key":"10.1016\/j.lpm.2026.104344_bib0070","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1007\/s00018-023-04695-x","article-title":"LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size","volume":"80","author":"Serra-Vinardell","year":"2023","journal-title":"Cell Mol Life Sci."},{"key":"10.1016\/j.lpm.2026.104344_bib0071","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2024.1404846","article-title":"The lysosomal trafficking regulator \"LYST\": an 80-year traffic jam","volume":"15","author":"Turner","year":"2024","journal-title":"Front Immunol."},{"issue":"4","key":"10.1016\/j.lpm.2026.104344_bib0072","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1111\/j.1346-8138.1993.tb03867.x","article-title":"Ch\u00e9diak-Higashi syndrome: report of a case and review of the Japanese literature","volume":"20","author":"Fukai","year":"1993","journal-title":"J Dermatol."},{"issue":"5 Suppl","key":"10.1016\/j.lpm.2026.104344_bib0073","doi-asserted-by":"crossref","first-page":"S244","DOI":"10.1016\/S0190-9622(03)00123-3","article-title":"Hyperpigmentation in Chediak-Higashi syndrome","volume":"49","author":"Al-Khenaizan","year":"2003","journal-title":"J Am Acad Dermatol."},{"issue":"11","key":"10.1016\/j.lpm.2026.104344_bib0074","doi-asserted-by":"crossref","first-page":"e416","DOI":"10.1111\/1346-8138.14987","article-title":"Novel gene mutations in Ch\u00e9diak-Higashi syndrome with hyperpigmentation","volume":"46","author":"Fukuchi","year":"2019","journal-title":"J Dermatol."},{"issue":"1","key":"10.1016\/j.lpm.2026.104344_bib0075","doi-asserted-by":"crossref","first-page":"71","DOI":"10.3109\/09537104.2011.654293","article-title":"Rapid ultrastructural detection of success or failure after bone marrow transplantation in the Chediak-Higashi syndrome","volume":"24","author":"White","year":"2013","journal-title":"Platelets."},{"key":"10.1016\/j.lpm.2026.104344_bib0076","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/j.ddmod.2019.10.008","article-title":"Chediak-Higashi syndrome: a review of the past, present, and future","volume":"31","author":"Sharma","year":"2020","journal-title":"Drug Discov Today Dis Models."},{"issue":"2","key":"10.1016\/j.lpm.2026.104344_bib0077","doi-asserted-by":"crossref","first-page":"337","DOI":"10.3324\/haematol.2020.248153","article-title":"Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy","volume":"106","author":"Nurden","year":"2021","journal-title":"Haematologica"},{"issue":"2","key":"10.1016\/j.lpm.2026.104344_bib0078","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1006\/mgme.1999.2927","article-title":"Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome","volume":"68","author":"Introne","year":"1999","journal-title":"Mol Genet Metab."},{"issue":"2","key":"10.1016\/j.lpm.2026.104344_bib0079","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1080\/15513815.2022.2077489","article-title":"Chediak Higashi Syndrome with Hemophagocytic Lymphohistiocytosis","volume":"42","author":"Safavi","year":"2023","journal-title":"Fetal Pediatr Pathol"},{"key":"10.1016\/j.lpm.2026.104344_bib0080","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1186\/s13023-014-0132-6","article-title":"Towards the targeted management of Chediak-Higashi syndrome","volume":"9","author":"Lozano","year":"2014","journal-title":"Orphanet J Rare Dis."},{"issue":"5","key":"10.1016\/j.lpm.2026.104344_bib0081","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1016\/j.hoc.2015.06.007","article-title":"Pathogenesis of Hemophagocytic Lymphohistiocytosis","volume":"29","author":"Filipovich","year":"2015","journal-title":"Hematol Oncol Clin North Am"},{"issue":"2","key":"10.1016\/j.lpm.2026.104344_bib0082","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1002\/pbc.21039","article-title":"HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis","volume":"48","author":"Henter","year":"2007","journal-title":"Pediatr Blood Cancer."},{"key":"10.1016\/j.lpm.2026.104344_bib0083","series-title":"GeneReviews\u00ae [Internet].","article-title":"Chediak-Higashi Syndrome [updated 2023 Dec 21]","author":"Toro","year":"2009"},{"issue":"11","key":"10.1016\/j.lpm.2026.104344_bib0084","article-title":"Chediak-Higashi Syndrome With Epstein-Barr Virus Triggered Hemophagocytic Lymphohistiocytosis: A Case Report","volume":"12","author":"Gopaal","year":"2020","journal-title":"Cureus."},{"key":"10.1016\/j.lpm.2026.104344_bib0085","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1186\/1750-1172-8-46","article-title":"Atypical Ch\u00e9diak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease","volume":"8","author":"Weisfeld-Adams","year":"2013","journal-title":"Orphanet J Rare Dis."},{"issue":"2","key":"10.1016\/j.lpm.2026.104344_bib0086","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1002\/mds.25386","article-title":"Chediak-Higashi syndrome presenting as young-onset levodopa-responsive parkinsonism","volume":"28","author":"Bhambhani","year":"2013","journal-title":"Mov Disord."},{"issue":"3","key":"10.1016\/j.lpm.2026.104344_bib0087","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1002\/mus.25259","article-title":"Peripheral nervous system manifestations of Chediak-Higashi disease","volume":"55","author":"Lehky","year":"2017","journal-title":"Muscle Nerve."},{"issue":"12","key":"10.1016\/j.lpm.2026.104344_bib0088","doi-asserted-by":"crossref","first-page":"3007","DOI":"10.1002\/ajmg.a.61886","article-title":"Diagnosis of Chediak Higashi disease in a 67-year old woman","volume":"182","author":"Yarnell","year":"2020","journal-title":"Am J Med Genet A."},{"issue":"1","key":"10.1016\/j.lpm.2026.104344_bib0089","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1080\/13554794.2020.1856384","article-title":"Chediak-Higashi syndrome: neurocognitive and behavioral data from infancy to adulthood after bone marrow transplantation","volume":"27","author":"Yliranta","year":"2021","journal-title":"Neurocase."},{"issue":"2","key":"10.1016\/j.lpm.2026.104344_bib0090","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1038\/s10038-021-00977-z","article-title":"Ch\u00e9diak-Higashi syndrome presenting as a hereditary spastic paraplegia","volume":"67","author":"Koh","year":"2022","journal-title":"J Hum Genet."},{"key":"10.1016\/j.lpm.2026.104344_bib0091","doi-asserted-by":"crossref","first-page":"506","DOI":"10.4103\/2229-5178.193910","article-title":"Griscelli syndrome type-3","volume":"7","author":"Shah","year":"2016","journal-title":"Indian Dermatol. Online J."},{"issue":"2","key":"10.1016\/j.lpm.2026.104344_bib0092","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1111\/1346-8138.15177","article-title":"Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky-Pudlak syndrome type 2","volume":"47","author":"Nishikawa","year":"2020","journal-title":"J Dermatol."},{"key":"10.1016\/j.lpm.2026.104344_bib0093","article-title":"Case report: Exotropia in Waardenburg syndrome with novel variations","volume":"13","author":"Huang","year":"2022","journal-title":"Front Genet."},{"issue":"12","key":"10.1016\/j.lpm.2026.104344_bib0094","doi-asserted-by":"crossref","first-page":"3074","DOI":"10.1002\/ajmg.a.61887","article-title":"Does SNAI2 mutation cause human piebaldism and Waardenburg syndrome?","volume":"182","author":"Mirhadi","year":"2020","journal-title":"Am J Med Genet A."},{"issue":"25","key":"10.1016\/j.lpm.2026.104344_bib0095","doi-asserted-by":"crossref","first-page":"3231","DOI":"10.1093\/hmg\/11.25.3231","article-title":"SLUG (SNAI2) deletions in patients with Waardenburg disease","volume":"11","author":"S\u00e1nchez-Mart\u00edn","year":"2002","journal-title":"Hum Mol Genet."},{"issue":"5","key":"10.1016\/j.lpm.2026.104344_bib0096","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1111\/j.1346-8138.2012.01583.x","article-title":"Piebaldism","volume":"40","author":"Oiso","year":"2013","journal-title":"J Dermatol."},{"key":"10.1016\/j.lpm.2026.104344_bib0097","doi-asserted-by":"crossref","first-page":"869","DOI":"10.4103\/neuroindia.NI_762_16","article-title":"Griscelli syndrome: A rare disorder","volume":"65","author":"Sahu","year":"2017","journal-title":"Neurol. India."},{"key":"10.1016\/j.lpm.2026.104344_bib0098","doi-asserted-by":"crossref","first-page":"76","DOI":"10.5582\/irdr.2016.01084","article-title":"Griscelli syndrome subtype 2 with hemophagocytic lympho-histiocytosis: A case report and review of literature","volume":"6","author":"Minocha","year":"2017","journal-title":"Intractable Rare Dis. Res."},{"issue":"3","key":"10.1016\/j.lpm.2026.104344_bib0099","doi-asserted-by":"crossref","first-page":"78","DOI":"10.3390\/medicina55030078","article-title":"Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes","volume":"55","author":"Gironi","year":"2019","journal-title":"Medicina (Kaunas)."},{"key":"10.1016\/j.lpm.2026.104344_bib0100","doi-asserted-by":"crossref","first-page":"38","DOI":"10.4103\/ijt.ijt_21_16","article-title":"Light Microscopy and Polarized Microscopy: A Dermatological Tool to Diagnose Gray Hair Syndromes","volume":"9","author":"Chandravathi","year":"2017","journal-title":"Int. J. Trichol."},{"issue":"3","key":"10.1016\/j.lpm.2026.104344_bib0101","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1038\/ng0797-289","article-title":"Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene","volume":"16","author":"Pastural","year":"1997","journal-title":"Nat Genet."},{"issue":"3","key":"10.1016\/j.lpm.2026.104344_bib0102","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1111\/j.1525-1470.2007.00410.x","article-title":"What Syndrome Is This?","volume":"24","author":"de Oliveira Sobrinho","year":"2007","journal-title":"Pediatric Dermatology [Internet]"},{"issue":"2","key":"10.1016\/j.lpm.2026.104344_bib0103","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1111\/j.1399-0004.1997.tb02432.x","article-title":"A new case of oculocerebral hypopigmentation syndrome (Cross syndrome) with additional findings","volume":"51","author":"Tezcan","year":"1997","journal-title":"Clin Genet."},{"issue":"4","key":"10.1016\/j.lpm.2026.104344_bib0104","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1159\/000335609","article-title":"Oculocerebral hypopigmentation syndrome maps to chromosome 3q27.1q29","volume":"223","author":"Chabchoub","year":"2011","journal-title":"Dermatology."}],"container-title":["La Presse M\u00e9dicale"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0755498226000102?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0755498226000102?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,9,6]],"date-time":"2026-09-06T08:12:32Z","timestamp":1788682352000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0755498226000102"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9]]},"references-count":104,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,9]]}},"alternative-id":["S0755498226000102"],"URL":"https:\/\/doi.org\/10.1016\/j.lpm.2026.104344","relation":{},"ISSN":["0755-4982"],"issn-type":[{"value":"0755-4982","type":"print"}],"subject":[],"published":{"date-parts":[[2026,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Oculo-Cutaneous and syndromic albinisms: Epidemiology, clinical spectrum and diagnosis","name":"articletitle","label":"Article Title"},{"value":"La Presse M\u00e9dicale","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.lpm.2026.104344","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 Published by Elsevier Masson SAS.","name":"copyright","label":"Copyright"}],"article-number":"104344"}}