{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T19:38:59Z","timestamp":1786649939795,"version":"build-2736575974"},"reference-count":7,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","license":[{"start":{"date-parts":[[2025,6,2]],"date-time":"2025-06-02T00:00:00Z","timestamp":1748822400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>An 11-year-old girl presented with painful plantar hyperkeratosis and nail dystrophy, evident since infancy. Examination revealed hyperkeratotic plaques on the soles, wedge-shaped nail hypertrophy, follicular hyperkeratosis over the extremities, and oral leukokeratosis. A positive maternal history suggested autosomal dominant inheritance with variable expressivity, consistent with pachyonychia congenita. Fungal infection was excluded via KOH mount; genetic testing was unavailable due to financial constraints. Despite prior treatments with keratolytics and emollients, improvement was minimal. This case highlights the early onset, classical features, and psychosocial burden associated with pachyonychia congenita, emphasizing the importance of early diagnosis, genetic counseling, and supportive care.<\/jats:p>","DOI":"10.4103\/aam.aam_62_25","type":"journal-article","created":{"date-parts":[[2025,6,2]],"date-time":"2025-06-02T03:01:28Z","timestamp":1748833288000},"page":"218-220","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Early-onset Pachyonychia Congenita with Oral and Cutaneous Manifestations"],"prefix":"10.4103","volume":"25","author":[{"given":"Shambhavi","family":"Singh","sequence":"first","affiliation":[{"name":"Department of Dermatology, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth, (Deemed to be University), Pune, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ajay","family":"Kumar","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth, (Deemed to be University), Pune, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kalyan","family":"Dalave","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth, (Deemed to be University), Pune, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nishtha","family":"Mishra","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth, (Deemed to be University), Pune, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2025,6,2]]},"reference":[{"key":"R1-20260109","doi-asserted-by":"crossref","first-page":"52","DOI":"10.2302\/kjm.2023-0012-IR","article-title":"Pachyonychia congenita: Clinical features and future treatments","volume":"74","author":"McCarthy","year":"2025","journal-title":"Keio J Med"},{"key":"R2-20260109","doi-asserted-by":"crossref","first-page":"1018","DOI":"10.1038\/jid.2011.20","article-title":"A large mutational study in pachyonychia congenita","volume":"131","author":"Wilson","year":"2011","journal-title":"J Invest Dermatol"},{"key":"R3-20260109","doi-asserted-by":"crossref","first-page":"1510","DOI":"10.1093\/ced\/llae199","article-title":"Pachyonychia congenita: pathogenesis of pain and approaches to treatment","volume":"49","author":"McCarthy","year":"2024","journal-title":"Clin Exp Dermatol"},{"key":"R4-20260109","doi-asserted-by":"crossref","first-page":"225","DOI":"10.4103\/2229-5178.115527","article-title":"Pachyonychia congenita: A rare genodermatosis","volume":"4","author":"Agarwal","year":"2013","journal-title":"Indian Dermatol Online J"},{"key":"R5-20260109","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1111\/j.1087-0024.2005.10204.x","article-title":"The genetic basis of pachyonychia congenita","volume":"10","author":"Smith","year":"2005","journal-title":"J Investig Dermatol Symp Proc"},{"key":"R6-20260109","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1001\/jamadermatol.2013.6448","article-title":"Pachyonychia congenita in pediatric patients: Natural history, features, and impact","volume":"150","author":"Shah","year":"2014","journal-title":"JAMA Dermatol"},{"key":"R7-20260109","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1016\/j.pedneo.2022.09.018","article-title":"Phenotype and genotype features of Vietnamese children with pachyonychia congenita","volume":"64","author":"Chu","year":"2023","journal-title":"Pediatr Neonatol"}],"container-title":["Annals of African Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/aam.aam_62_25","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T19:00:12Z","timestamp":1786647612000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/aam.aam_62_25"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,2]]},"references-count":7,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026]]}},"URL":"https:\/\/doi.org\/10.4103\/aam.aam_62_25","relation":{},"ISSN":["1596-3519","0975-5764"],"issn-type":[{"value":"1596-3519","type":"print"},{"value":"0975-5764","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,6,2]]},"assertion":[{"value":"2025-02-28","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-14","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}