{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,28]],"date-time":"2025-12-28T20:31:44Z","timestamp":1766953904420},"reference-count":25,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2016,4,29]],"date-time":"2016-04-29T00:00:00Z","timestamp":1461888000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,7]]},"abstract":"<jats:sec><jats:label\/><jats:p>Shwachman\u2013Diamond syndrome (SDS) is a recessive ribosomopathy, characterized by bone marrow failure and exocrine pancreatic insufficiency (ePI) often associated with neurodevelopmental and skeletal abnormalities. The aim of this report is to describe a SDS patient with early ichthyosis associated with dermal and epidermal intracellular lipid droplets (iLDs), hypoglycemia and later a distinctive clinical SDS phenotype. At 3 months of age, she had ichthyosis, growth retardation, and failure to thrive. She had not cytopenia. Ultrasonography (US) showed pancreatic diffuse high echogenicity. Subsequently fasting hypoketotic hypoglycemia occurred without permanent hepatomegaly or hyperlipidemia. Continuous gavage feeding was followed by clinical improvement including ichthyosis and hypoglycemia. After 14 months of age, she developed persistent neutropenia and ePI consistent with SDS. The ichthyotic skin biopsy, performed at 5 months of age, disclosed iLDs in all epidermal layers, in melanocytes, eccrine sweat glands, Schwann cells and dermal fibroblasts. These iLDs were reminiscent of those described in Dorfman\u2013Chanarin syndrome (DCS) or Wolman'<jats:sub>s<\/jats:sub> disease. Both <jats:italic>LIPA<\/jats:italic> and <jats:italic>CGI\u201058<\/jats:italic> analysis did not revealed pathogenic mutation. By sequencing <jats:italic>SBDS<\/jats:italic>, a compound heterozygous for a previously reported gene mutation (c.258\u2009+\u20092T&gt;C) and a novel mutation (c.284T&gt;G) were found. Defective <jats:italic>SBDS<\/jats:italic> may hypothetically interfere as in DCS, with neutral lipid metabolism and play a role in the SDS phenotype such as ichthyosis with dermal and epidermal iLDs and hypoglycemia. This interference with neutral lipid metabolism must most likely occur in the cytoplasm compartment as in DCS and not in the lysosomal compartment as in Wolman's disease. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37673","type":"journal-article","created":{"date-parts":[[2016,4,30]],"date-time":"2016-04-30T17:31:34Z","timestamp":1462037494000},"page":"1799-1805","source":"Crossref","is-referenced-by-count":8,"title":["Shwachman\u2013Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype"],"prefix":"10.1002","volume":"170","author":[{"given":"Emmanuel","family":"Scalais","sequence":"first","affiliation":[{"name":"Division of Pediatric Neurology Centre Hospitalier de Luxembourg Luxembourg Luxembourg"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne\u2010Catherine","family":"Connerotte","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology Centre Hospitalier de Luxembourg Luxembourg Luxembourg"},{"name":"Department of Pediatrics Centre Hospitalier de Luxembourg Luxembourg Luxembourg"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karine","family":"Despontin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Centre Hospitalier de Luxembourg Luxembourg Luxembourg"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Armand","family":"Biver","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Centre Hospitalier de Luxembourg Luxembourg Luxembourg"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chantal","family":"Ceuterick\u2010de Groote","sequence":"additional","affiliation":[{"name":"Department of Neuropathology Institute Born\u2010Bunge and University of Antwerp Antwerpen Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marielle","family":"Alders","sequence":"additional","affiliation":[{"name":"Department of Genetic Academisch Centrum Amsterdam Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Athanassios","family":"Kolivras","sequence":"additional","affiliation":[{"name":"Departments of Dermatology and Dermatopathology Saint\u2010Pierre, Brugmann and HUDERF Hospitals Universit\u00e9 Libre de Bruxelles Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Pierre","family":"Hachem","sequence":"additional","affiliation":[{"name":"Department of Dermatology Centre Hospitalier Emile Mayrisch Luxembourg Luxembourg"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linda","family":"De Meirleir","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology and Metabolic UZBrussel Vrije Universiteit Brussel Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,4,29]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1080\/08035250510034932"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2003.12520.x"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1177\/0009922808323114"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2006.01.010"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1062"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00691802"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-15-64"},{"key":"e_1_2_5_9_1","first-page":"677","article-title":"Sweat\u2010gland function in patients with X\u2010linked ichthyosis","volume":"82","author":"Delfino M","year":"1991","journal-title":"Recenti Prog Med"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5700332"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2011.057489"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.20478"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.2011.06349.x"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.623011"},{"key":"e_1_2_5_15_1","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1001\/archderm.1991.01680020093012","article-title":"Ichthyosis, exocrine pancreatic insufficiency, impaired neutrophil chemotaxis, growth retardation, and metaphyseal dysplasia (Shwachman syndrome). 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