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Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvans.
Eur J Med Genet 2009 Jan-Feb; 52(1):53-8EJ

Abstract

Keratosis follicularis spinulosa decalvans (KFSD) is an uncommon genodermatosis mainly characterized by follicular hyperkeratosis, progressive cicatricial alopecia and photophobia. Although an excess of affected males and linkage studies strongly suggest an X-linked pattern of inheritance, an apparently rarer autosomal dominant form with prominent follicular inflammation has also been postulated. We report on a three-generation family with five affected individuals and male-to-male transmission. In addition to widespread keratosis pilaris, cicatricial alopecia and eye involvement, our patients show diffuse facial erythema, recurrent folliculitis, enamel hypoplasia, and thickened nails. A literature review of the last 50 years identified 43 additional KFSD cases. X-linked inheritance is demonstrated in two pedigrees by linkage studies and suspected in five. An autosomal dominant pattern is confirmed in three families, including ours, by male-to-male transmission and considered likely in four. Marked facial erythema, extensive folliculitis, onychodystrophy and multiple caries are frequently reported in the autosomal dominant variant, while palmo-plantar keratoderma and early onset seem more typical of the X-linked form. Moreover, three sporadic male patients showing additional multisystemic abnormalities might be explained by an X-linked contiguous-gene syndrome.

Authors+Show Affiliations

Laboratory of Molecular and Cell Biology, IDI-IRCCS, Rome, Italy. mcastori@scamilloforlanini.rm.itNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

18984066

Citation

Castori, Marco, et al. "Clinical and Genetic Heterogeneity in Keratosis Follicularis Spinulosa Decalvans." European Journal of Medical Genetics, vol. 52, no. 1, 2009, pp. 53-8.
Castori M, Covaciu C, Paradisi M, et al. Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvans. Eur J Med Genet. 2009;52(1):53-8.
Castori, M., Covaciu, C., Paradisi, M., & Zambruno, G. (2009). Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvans. European Journal of Medical Genetics, 52(1), pp. 53-8. doi:10.1016/j.ejmg.2008.09.005.
Castori M, et al. Clinical and Genetic Heterogeneity in Keratosis Follicularis Spinulosa Decalvans. Eur J Med Genet. 2009;52(1):53-8. PubMed PMID: 18984066.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvans. AU - Castori,Marco, AU - Covaciu,Claudia, AU - Paradisi,Mauro, AU - Zambruno,Giovanna, Y1 - 2008/10/17/ PY - 2008/06/10/received PY - 2008/09/23/accepted PY - 2008/11/6/pubmed PY - 2009/4/29/medline PY - 2008/11/6/entrez SP - 53 EP - 8 JF - European journal of medical genetics JO - Eur J Med Genet VL - 52 IS - 1 N2 - Keratosis follicularis spinulosa decalvans (KFSD) is an uncommon genodermatosis mainly characterized by follicular hyperkeratosis, progressive cicatricial alopecia and photophobia. Although an excess of affected males and linkage studies strongly suggest an X-linked pattern of inheritance, an apparently rarer autosomal dominant form with prominent follicular inflammation has also been postulated. We report on a three-generation family with five affected individuals and male-to-male transmission. In addition to widespread keratosis pilaris, cicatricial alopecia and eye involvement, our patients show diffuse facial erythema, recurrent folliculitis, enamel hypoplasia, and thickened nails. A literature review of the last 50 years identified 43 additional KFSD cases. X-linked inheritance is demonstrated in two pedigrees by linkage studies and suspected in five. An autosomal dominant pattern is confirmed in three families, including ours, by male-to-male transmission and considered likely in four. Marked facial erythema, extensive folliculitis, onychodystrophy and multiple caries are frequently reported in the autosomal dominant variant, while palmo-plantar keratoderma and early onset seem more typical of the X-linked form. Moreover, three sporadic male patients showing additional multisystemic abnormalities might be explained by an X-linked contiguous-gene syndrome. SN - 1878-0849 UR - https://www.unboundmedicine.com/medline/citation/18984066/Clinical_and_genetic_heterogeneity_in_keratosis_follicularis_spinulosa_decalvans_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1769-7212(08)00132-8 DB - PRIME DP - Unbound Medicine ER -