Phenotype #0000092175

Individual ID	00116654
Associated disease	IFAP1
Phenotype details	Congenital ichthyosis with dry skin and mild scaling, follicular keratosis of capillitium with mild erythema, primary universal alopecia, no eyebrows, very small eyelashes, pronounced follicular keratoses on knees and over the Achilles tendon, patches of â??psoriasiform skin lesionsâ? on the lower legs (at age of 3 y), generalized hypohidrosis, history of perioral eczema. Histology: Ichthyosis follicularis, atrichia, hyperkeratosis of the sweet gland ducts. Neurology: delayed speech development, EEG normal. ENT: Moderate hearing deficit (> 40 db). Others: Mild syndactyly of the toe, inguinal hernia at the age of 4y; IFAP syndrome
Diagnosis/Initial	-
Inheritance	Familial, X-linked dominant, male sparing
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 10:27:31 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD