Document Detail


Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers.
MedLine Citation:
PMID:  1552542     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Keratosis follicularis spinulosa decalvans (KFSD) is a rare X linked disease which is characterised by follicular hyperkeratosis of the skin and corneal dystrophy. Seven male patients and six female carriers are described. Special attention has been paid to the dermatological and ophthalmic markers of KFSD in patients and carriers. The most prominent features present in the male patients were follicular hyperkeratosis, hyperkeratosis of the calcaneal regions of the soles, scarring alopecia of the scalp, absence of eyebrows and eyelashes, and corneal dystrophy accompanied by photophobia. They also had high cuticles on the fingernails which has not been described before. Carriers often have dry skin, minimal follicular hyperkeratosis, and mild hyperkeratosis of the calcaneal areas of the soles. Mild corneal dystrophy without photophobia was observed in one female carrier.
Authors:
L D van Osch; A P Oranje; F M Keukens; P C van Voorst Vader; E Veldman
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of medical genetics     Volume:  29     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1992 Jan 
Date Detail:
Created Date:  1992-04-30     Completed Date:  1992-04-30     Revised Date:  2010-09-07    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  36-40     Citation Subset:  IM    
Affiliation:
Netherlands Ophthalmic Research Institute, Department of Ophthalmogenetics, Amsterdam.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Adult
Child
Corneal Dystrophies, Hereditary / genetics,  pathology
Darier Disease / genetics*,  pathology
Female
Heterozygote
Humans
Linkage (Genetics)
Male
Middle Aged
Pedigree
Photosensitivity Disorders / genetics
Skin / pathology
X Chromosome
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  The cyclops and the mermaid: an epidemiological study of two types of rare malformation.
Next Document:  Familial Scheuermann disease: a genetic and linkage study.