1978
DOI: 10.1001/archderm.114.5.761
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Keratosis follicularis spinulosa decalvans. An infant with failure to thrive, deafness, and recurrent infections

Abstract: A 10-month-old male infant had keratosis follicularis spinulosa decalvans, an X-linked dominant disorder. His cutaneous abnormalities consisted of generalized hyperkeratosis, spiny follicular papular lesions, universal alopecia, and hypoplastic nails. Ocular changes characteristic of the disease were also present. Unusual findings included deafness, failure to thrive, predisposition to bacterial infections without demonstrable immune defect, and transient hepatomegaly with abnormal liver function studies.

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Cited by 23 publications
(13 citation statements)
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“…267,269,270,274,275 Postpubertal remission or improvement can occur but is not predictable. 269,270,274 KFSD is associated occasionally with atopy 269,270,272,273 and rarely with other syndromes, 276,278,[281][282][283] some of which may be different genodermatoses unknown at the time of publication. 121,276 Differential diagnosis.…”
Section: Alopecia Mucinosamentioning
confidence: 99%
“…267,269,270,274,275 Postpubertal remission or improvement can occur but is not predictable. 269,270,274 KFSD is associated occasionally with atopy 269,270,272,273 and rarely with other syndromes, 276,278,[281][282][283] some of which may be different genodermatoses unknown at the time of publication. 121,276 Differential diagnosis.…”
Section: Alopecia Mucinosamentioning
confidence: 99%
“…In addition, nail examinations have revealed subungual hyperkeratosis, onycholysis, and cuticular hypertrophy, and gingival hypertrophy and dental agenesis may be seen in the oral mucosa [2,7,9,10]. Other clinical associations may include deafness, wooly hair, aminoaciduria, cutis hyperelastica, and mental retardation [8,9,11]. Acne keloidalis nuchae is a chronic disorder associated with folliculitis that is often seen in the neck area of young adult males.…”
Section: Discussionmentioning
confidence: 99%
“…Palmoplantarkeratosen und Nagelverände-rungen können hinzutreten. Bei den Nagelveränderungen imponieren insbesondere Hypoplasien [3] und Nagelhäutchen, deren freier Rand bis zur Mitte der Nagelplatte heranreicht [22]. Der Mitbefall der Wimpern bedingt Augensymptome, darunter Photophobie, Tränenträufeln, Madarosis und Ektropionierung der Lider sowie Trübung und Pannus der Hornhaut.…”
Section: Hautbefundunclassified
“…Finger, Gingivahyperplasie, mongoloide Gesichtsfalten [6] bzw. Trisomie 21 [2], Infektionsneigung [3], Aminoazidurie [10], Acne keloidalis nuchae [9], Naevus teleangiectaticus lateralis, persistierender Ductus arteriosus Botalli und Hypospadie [11], allerdings ist ein kausaler Zusammenhang mit der Keratosis follicularis spinulosa decalvans angesichts der wenigen Fallmitteilungen fraglich.…”
Section: Hautbefundunclassified
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