Phenotype #0000092169

Individual ID	00116649
Associated disease	IFAP1
Phenotype details	Hispanic male born at 38 weeks, pregnancy complicated by polyhydramnios. At birth diffusely red and dry skin, absent scalp hair, eyebrows, eyelashes; diffuse, spiny, keratotic follicular papules most prominent over scalp and eyebrows. At 4 weeks complete loss of scalp hair, eyebrows and eyelashes; very tiny keratotic spicules all over, most noticeable on forehead; nails normal; no keratoderma; hearing screen normal; ophthalmology exam reported as normal; no mention of photophobia. At 1 year 9 month: photophobia present; immunological abnormalities, mild B cell lymphopenia, poor antibody response. No family history of similar disorders; IFAP syndrome
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Karl-Heinz Grzeschik
Database submission license	No license selected
Created by	Karl-Heinz Grzeschik
Date created	2012-11-27 20:48:55 +01:00 (CET)
Date last edited	2012-12-14 09:21:15 +01:00 (CET)