Document Detail

Ichthyosis follicularis: a case report and review of the literature.
MedLine Citation:
PMID:  12558847     Owner:  NLM     Status:  MEDLINE    
Ichthyosis follicularis (IF) is a very rare neurocutaneous, X-linked recessive condition affecting the skin, hair, eyes, and central nervous system (CNS). This report describes a child with facial dysmorphism, mental retardation, psychomotor delay, congenital alopecia of the scalp, eyebrows, and eyelashes, and extensive spiny follicular papules. A skin biopsy specimen showed the characteristic absence of sebaceous glands. We also reviewed the literature on this very rare entity. Additional findings observed in our patient, including hepatosplenomegaly, undescended testicles, and ptosis, have not been reported before.
Abdullah Alfadley; Khalid Al Hawsawi; Khalid Al Aboud
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Pediatric dermatology     Volume:  20     ISSN:  0736-8046     ISO Abbreviation:  Pediatr Dermatol     Publication Date:    2003 Jan-Feb
Date Detail:
Created Date:  2003-01-31     Completed Date:  2003-06-12     Revised Date:  2009-03-03    
Medline Journal Info:
Nlm Unique ID:  8406799     Medline TA:  Pediatr Dermatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  48-51     Citation Subset:  IM    
Department of Medicine, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
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MeSH Terms
Abnormalities, Multiple / diagnosis
Alopecia / diagnosis*
Child, Preschool
Developmental Disabilities / physiopathology
Eye Diseases / diagnosis
Follow-Up Studies
Ichthyosis, X-Linked / diagnosis*
Mental Retardation / diagnosis*
Risk Assessment
Severity of Illness Index

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