IFAP Syndrome with or without Bresheck Syndrome

Alternative Names

Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
Ichthyosis Follicularis, Atrichia, and Photophobia with or without Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, and Kidney Dysplasia/Hypoplasia

Associated Genes

Membrane-Bound Transcription Factor Protease, Site 2

Back to search Result

WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

308205

Mode of Inheritance

X-linked recessive

Gene Map Locus

Xp22.12

Description

IFAP syndrome is characterized by ichthyosiform lesions, striking alopecia, short stature, severe photophobia, and mental retardation. Two kinds of dermatological abnormalities have been described in IFAP. The 'classical' IFAP syndrome is characterized by the presence of generalized cutaneous thorn-like projections, giving a 'nutmeg grater' or 'prickly surface of a rose leaf' feeling. However, atypical cases of the syndrome show a generalized lamellar desquamation, with well demarcated psoriasiform lesions involving the buttocks, gluteal fold, or the limbs, associated with inguinal hernia and/or ectrodactyly.

Epidemiology in the Arab World

View Map

Subject ID	Country	Sex	Family History	HPO Terms	Variant	Zygosity	Mode of Inheritance	Reference	Remarks
308205.1.1	Lebanon	Male	Yes	Alopecia; Ichthyosis follicularis; Pso... Alopecia; Ichthyosis follicularis; Psoriasiform lesion; Neurodevelopmental delay; Seizure; Osteoporosis; Renal insufficiency;	NM_015884.3:c.1424T>C	Hemizygous	X-linked, Recessive	Nemer et al, 2017; Bornholdt et al. 2013	Sibling of 308205.1....
308205.1.2	Lebanon	Male	Yes	Alopecia; Ichthyosis follicularis; Pso... Alopecia; Ichthyosis follicularis; Psoriasiform lesion; Ectrodactyly ; Neurodevelopmental delay ; Seizure; Osteoporosis; Renal insufficiency; ;	NM_015884.3:c.1424T>C	Hemizygous	X-linked, Recessive	Nemer et al, 2017; Bornholdt et al. 2013	Sibling of 308205.1....
308205.2.1	Syria	Male	Yes	Generalized keratosis follicularis; Alop... Generalized keratosis follicularis; Alopecia; Photophobia; Corneal ulceration	NM_015884.3:c.1499G>A	Hemizygous	X-linked, Recessive	Bornholdt et al. 2013
308205.2.2	Syria	Male	Yes	Generalized keratosis follicularis; Alop... Generalized keratosis follicularis; Alopecia; Photophobia; Corneal ulceration	NM_015884.3:c.1499G>A	Hemizygous	X-linked, Recessive	Bornholdt et al. 2013	Sibling of 308205.2....
308205.3	Algeria	Male		Follicular hyperkeratosis; Congenital al... Follicular hyperkeratosis; Congenital alopecia totalis; Photophobia; Nail dystrophy; Unilateral cryptorchidism	NM_015884.3:c.1430A>T	Hemizygous	X-linked, Recessive	Bornholdt et al. 2013

Download Table

Other Reports

Lebanon

Megarbane et al. (2004) reported the case of two siblings diagnosed with IFAP syndrome, born to non-consanguineous Lebanese parents. They noted that these cases had several overlapping symptoms with dermotrichic syndrome, indicating that both the disorders could be one and the same. Later, Traboulsi et al. (2004) reported the ocular findings in two siblings described by Megarbane et al. (2004) with IFAP and their mother to review the natural course of the keratopathy of this disease.

External Links

http://www.emedicine.com/oph/topic687.htm http://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?index=361

Contributors

Pratibha Nair: 27.06.2021
Ghazi O. Tadmouri: 27.08.2006
Pratibha Nair: 22.07.2006

Edit History

Pratibha Nair: 27.06.2021
Pratibha Nair: 06.06.2021
Pratibha Nair: 03.01.2019
Pratibha Nair: 27.08.2006