Ichthyosis Follicularis: A Case Report and Review of the Literature
| Autor: | F.R.C.P. Abdullah Alfadley M.D., Khalid Al Aboud, Khalid Al Hawsawi |
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| Rok vydání: | 2003 |
| Předmět: |
Male
medicine.medical_specialty Pathology Ichthyosis X-Linked Eye Diseases Developmental Disabilities Hyperkeratosis Hepatosplenomegaly Dermatology Risk Assessment Severity of Illness Index Ptosis Intellectual Disability medicine Humans Abnormalities Multiple integumentary system medicine.diagnostic_test business.industry Ichthyosis Alopecia Prognosis medicine.disease Dyskeratosis medicine.anatomical_structure Child Preschool Scalp Pediatrics Perinatology and Child Health Skin biopsy medicine.symptom business Follow-Up Studies Congenital Alopecia |
| Zdroj: | Pediatric Dermatology. 20:48-51 |
| ISSN: | 1525-1470 0736-8046 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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