{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T15:34:49Z","timestamp":1791473689940,"version":"4.3.4"},"reference-count":36,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,3,19]],"date-time":"2021-03-19T00:00:00Z","timestamp":1616112000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ichthyosis follicularis, atrichia and photophobia syndrome (IFAP) is an X\u2010linked inherited disease caused by pathogenic variants in the gene encoding the membrane\u2010bound transcription factor peptidase, site 2 (<jats:italic>MBTPS2<\/jats:italic>). Clinical presentation includes ichthyosis follicularis, alopecia, photophobia and developmental delay. Hereditary mucoepithelial dysplasia (HMD) is a dominantly inherited disease characterized by keratitis, non\u2010scarring alopecia, skin lesions including follicular keratosis, perineal erythema, and mucosal involvement. Recently, variants in <jats:italic>SREBF1<\/jats:italic>, a gene coding for a transcription factor related to cholesterol and fatty acid synthesis, have been associated with the disease. These two syndromes share a common clinical spectrum. Here, we describe an IFAP syndrome patient with a novel variant in the <jats:italic>MBTPS2<\/jats:italic> gene and an HMD patient with a previously reported variant in the <jats:italic>SREBF1<\/jats:italic> gene. In addition, we present a review of the literature describing the triad characterized by non\u2010scarring alopecia, keratosis follicularis, and ocular symptoms common in both IFAP and HMD patients to raise awareness of these underdiagnosed diseases. We also highlight the subtle differences in clinical presentation between the two disorders to better enable differentiation.<\/jats:p>","DOI":"10.1111\/pde.14560","type":"journal-article","created":{"date-parts":[[2021,3,20]],"date-time":"2021-03-20T06:42:32Z","timestamp":1616222552000},"page":"568-574","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Ichthyosis follicularis, atrichia and photophobia (IFAP) and hereditary mucoepithelial dysplasia: Two syndromes that share a common clinical spectrum"],"prefix":"10.1111","volume":"38","author":[{"given":"In\u00e9s","family":"Irurzun","sequence":"first","affiliation":[{"name":"Dermatology Unit Hospital de Ni\u00f1os Dr. Ricardo Guti\u00e9rrez Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00f3nica I.","family":"Natale","sequence":"additional","affiliation":[{"name":"Center in Investigation of Genodermatosis and Epidermolysis Bullosa (CEDIGEA) University of Buenos Aires Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda L.","family":"Agostinelli","sequence":"additional","affiliation":[{"name":"Private practice Venado Tuerto, Santa Fe Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Lamberti","sequence":"additional","affiliation":[{"name":"Dermatology Unit Hospital de Ni\u00f1os Dr. Ricardo Guti\u00e9rrez Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dolores","family":"Montero","sequence":"additional","affiliation":[{"name":"Dermatology Unit Hospital de Ni\u00f1os Dr. Ricardo Guti\u00e9rrez Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"Granda","sequence":"additional","affiliation":[{"name":"Pathological Anatomy Hospital de Ni\u00f1os Dr. Ricardo Guti\u00e9rrez Buenos Aires 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