MCID: ICH011
MIFTS: 18

Ichthyosis Follicularis Atrichia Photophobia Syndrome

Categories: Cardiovascular diseases, Ear diseases, Eye diseases, Rare diseases

Aliases & Classifications for Ichthyosis Follicularis Atrichia Photophobia Syndrome

MalaCards integrated aliases for Ichthyosis Follicularis Atrichia Photophobia Syndrome:

Name: Ichthyosis Follicularis Atrichia Photophobia Syndrome 52 71
Ifap Syndrome 52

Classifications:



External Ids:

UMLS 71 C1839988

Summaries for Ichthyosis Follicularis Atrichia Photophobia Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2273 Definition Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth. Epidemiology Prevalence is unknown. Approximately 40 cases have been reported to date. IFAP primarily affects male subjects. Female carriers may develop some clinical features. Clinical description All patients present with congenital follicular ichthyosis, alopecia involving the scalp, eyebrows and eyelashes, and photophobia (in the first year of life, infancy or early childhood). Ichthyosis follicularis is characterized by widespread non-inflammatory thorn-like follicular projections. Hyperkeratotic papules are most pronounced over the extensor extremities and scalp and are distributed symmetrically. Non-cicatricial complete body alopecia is also a classical feature. Variable degrees of a collodion membrane may be present in newborns. Psoriasiform plaques, angular cheilitis, periungueal inflammation, dystrophic nails, hypohidrosis and atopic eczema can be present. The palms and soles are generally unaffected. Superficial corneal ulceration and vascularization may lead to progressive corneal scarring. Male patients have relentless progression of corneal vascularization and loss of vision. Atopic keratoconjunctival inflammation, chronic tearing, cataract , horizontal nystagmus , astigmatism and myopia have been reported. In a few cases, mild to severe intellectual disability , short stature , microcephaly , seizures , dysmorphic features (frontal bossing, choanal atresia, large ears), cleft hands, intestinal anomalies (omphalocele, Hirschsprung disease or congenital aganglionic megacolon (see these terms), small intestine stenosis, inguinal hernia), as well as renal, cardiac and vertebral anomalies can be present. Recurrent infections are common. External genitalia are generally normal with a few cases of cryptorchidism and one with hypospadias. Affected or carrier females may have milder symptoms (cutaneous hyperkeratotic lesions that follow the lines of Blaschko, asymmetric distribution of body hair, patchy alopecia). Etiology The disorder is caused by mutations in the MBTPS2 gene (Xp22.12-p22.11) leading to impaired cholesterol homeostasis and response to endoplasmic reticulum stress. Diagnostic methods Diagnosis is based on the clinical features and on testing of the MBTPS2 gene. Differential diagnosis Differential diagnosis includes dermotrichic syndrome , hereditary mucoepithelial dysplasia, keratitis-ichthyosis-deafness (KID syndrome) and keratosis follicularis spinulosa decalvans (see these terms). Antenatal diagnosis IFAP cannot be detected prenatally by ultrasound . Genetic counseling If the mutation has been identified in a carrier mother, prenatal diagnosis can be proposed. Transmission is X-linked recessive . The mutation might also arise de novo . A few cases of autosomal dominant inheritance have been reported. Management and treatment Follicular hyperkeratosis can be treated using topical keratolytics, emollients and urea preparations. A moderate response to acitretin therapy has been found in some patients. Intensive lubrication of the ocular surface is essential. Corneal vascularization does not respond to topical corticosteroids . Prognosis Prognosis is variable. Some patients die in the neonatal period while others have normal life expectancy. However, in most patients, progressive loss of vision leads to loss of autonomy. Cardiopulmonary complications are the main cause of death. Visit the Orphanet disease page for more resources.

MalaCards based summary : Ichthyosis Follicularis Atrichia Photophobia Syndrome, also known as ifap syndrome, is related to ifap syndrome with or without bresheck syndrome and ichthyosis, and has symptoms including seizures and photophobia. Affiliated tissues include small intestine, testes and skin.

Related Diseases for Ichthyosis Follicularis Atrichia Photophobia Syndrome

Diseases related to Ichthyosis Follicularis Atrichia Photophobia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 ifap syndrome with or without bresheck syndrome 12.0
2 ichthyosis 10.7
3 alopecia 10.6
4 keratosis 10.3
5 inguinal hernia 10.3
6 ichthyosis, follicular 10.3
7 keratitis, hereditary 10.2
8 visual epilepsy 10.2
9 erythrokeratoderma ''en cocardes'' 10.2
10 seizure disorder 10.2
11 cryptorchidism, unilateral or bilateral 10.1
12 alopecia, congenital 10.1
13 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, x-linked 10.1
14 branchiootic syndrome 1 10.1
15 palmoplantar keratosis 10.1
16 pustulosis of palm and sole 10.1
17 psoriasis 10.1
18 rare genetic skin disease 10.1
19 cleft palate, isolated 10.0
20 darier-white disease 10.0
21 hirschsprung disease 1 10.0
22 nail disorder, nonsyndromic congenital, 1 10.0
23 lymphoma, hodgkin, classic 10.0
24 dermatitis, atopic 10.0
25 keratosis follicularis spinulosa decalvans, autosomal dominant 10.0
26 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 10.0
27 alacrima, achalasia, and mental retardation syndrome 10.0
28 chorea, childhood-onset, with psychomotor retardation 10.0
29 lymphoma 10.0
30 umbilical hernia 10.0
31 rickets 10.0
32 megacolon 10.0
33 choreatic disease 10.0
34 candidiasis 10.0
35 ectodermal dysplasia 10.0
36 keratopathy 10.0
37 retinal vascular disease 10.0
38 dermatitis 10.0
39 skin atrophy 10.0
40 keratosis follicularis spinulosa decalvans 10.0
41 dermotrichic syndrome 10.0

Graphical network of the top 20 diseases related to Ichthyosis Follicularis Atrichia Photophobia Syndrome:



Diseases related to Ichthyosis Follicularis Atrichia Photophobia Syndrome

Symptoms & Phenotypes for Ichthyosis Follicularis Atrichia Photophobia Syndrome

UMLS symptoms related to Ichthyosis Follicularis Atrichia Photophobia Syndrome:


seizures, photophobia

Drugs & Therapeutics for Ichthyosis Follicularis Atrichia Photophobia Syndrome

Search Clinical Trials , NIH Clinical Center for Ichthyosis Follicularis Atrichia Photophobia Syndrome

Genetic Tests for Ichthyosis Follicularis Atrichia Photophobia Syndrome

Anatomical Context for Ichthyosis Follicularis Atrichia Photophobia Syndrome

MalaCards organs/tissues related to Ichthyosis Follicularis Atrichia Photophobia Syndrome:

40
Small Intestine, Testes, Skin, Eye

Publications for Ichthyosis Follicularis Atrichia Photophobia Syndrome

Articles related to Ichthyosis Follicularis Atrichia Photophobia Syndrome:

(show all 48)
# Title Authors PMID Year
1
Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome: A Case Report and Review of Cases Reported from India. 61
31807449 2019
2
A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome. 61
31215178 2019
3
Hodgkin Lymphoma in a Patient With IFAP Syndrome: A Case Report and Review of Literature. 61
28654459 2018
4
Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities. 61
28913623 2017
5
Understanding the phenotypic similarities between IFAP and Olmsted syndrome from a molecular perspective: the interaction of MBTPS2 and TRPV3. 61
28717930 2017
6
Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome. 61
28839390 2017
7
Ichthyosis follicularis with alopecia and photophobia syndrome (IFAP): A Case Report. 61
28329493 2017
8
Ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome affecting two successive generations in an Indian family. 61
27212281 2016
9
Clinical and molecular characterization of two patients with palmoplantar keratoderma-congenital alopecia syndrome type 2. 61
27339777 2016
10
Inherited ichthyosis: Syndromic forms. 61
26945533 2016
11
Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2. 61
25683132 2015
12
A Case of IFAP Syndrome with Severe Atopic Dermatitis. 61
25685152 2015
13
Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient. 61
24313295 2014
14
Expanding the phenotype of IFAP/BRESECK syndrome: a new case with severe hypogammaglobulinemia. 61
24090718 2013
15
Novel MBTPS2 missense mutation in the N-terminus transmembrane domain in a patient with ichthyosis follicularis, alopecia, and photophobia syndrome. 61
23551428 2013
16
Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2. 61
23316014 2013
17
MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans. 61
22816986 2012
18
IFAP syndrome with severe cutaneous, neurologic and skeletal manifestations due to a novel MBTPS2 mutation in a Polish patient. 61
22781927 2012
19
IFAP Syndrome with Rickets and Normal Vitamin D Status. 61
22615524 2012
20
Ichthyosis follicularis, alopecia, and photophobia syndrome: a case report and a pathological insight into pilosebaceous anomaly. 61
21242756 2011
21
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome. 61
21600032 2011
22
Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome. 61
21426410 2011
23
A novel mutation in MBTPS2 causes a broad phenotypic spectrum of ichthyosis follicularis, atrichia, and photophobia syndrome in a large Chinese family. 61
21315478 2011
24
A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation. 61
21179107 2011
25
Photoletter to the editor: A new variant of ichthyosis follicularis with alopecia and photophobia (IFAP) syndrome with coexisting psoriasiform lesions and palmoplantar keratoderma. IFAP-PPK syndrome? 61
21886760 2011
26
Ichthyosis follicularis, alopecia and photophobia syndrome (IFAP): report of the first case with ocular and cutaneous manifestations in Brazil with a favorable response to treatment. 61
21670910 2011
27
Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2. 61
20672378 2010
28
A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome in a Chinese family. 61
20854407 2010
29
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome due to mutation of the gene MBTPS2 in a large Australian kindred. 61
19689518 2009
30
IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response. 61
19361614 2009
31
Expanding the phenotype of alopecia-contractures-dwarfism mental retardation syndrome (ACD syndrome): description of an additional case and review of the literature. 61
18204861 2008
32
Plasminogen activator inhibitor-2 is expressed in different types of congenital ichthyosis: in vivo evidence for its cross-linking into the cornified cell envelope by transglutaminase-1. 61
16634887 2006
33
Ichthyosis follicularis with alopecia and photophobia (IFAP) syndrome. 61
16707821 2006
34
Ichthyosis follicularis with congenital atrichia, nail dystrophy and palmoplantar keratoderma. Variant of IFAP syndrome or a new entity? 61
16409932 2005
35
Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome treated with acitretin. 61
16268889 2005
36
Ocular findings in ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome. 61
15370546 2004
37
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: report of a new family with additional features and review. 61
14708109 2004
38
What is IFAP syndrome? 61
14708110 2004
39
Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome in two unrelated female patients. 61
12004300 2002
40
IFAP syndrome "plus" seizures, mental retardation, and callosal hypoplasia. 61
32018937 2001
41
IFAP syndrome "plus" seizures, mental retardation, and callosal hypoplasia. 61
11301227 2001
42
[IFAP syndrome(ichthyosis follicularis, alopecia, and photophobia syndrome)]. 61
11529059 2001
43
Atrichia, ichthyosis, follicular hyperkeratosis, chronic candidiasis, keratitis, seizures, mental retardation and inguinal hernia: a severe manifestation of IFAP syndrome? 61
10694306 2000
44
Linear lesions reflecting lyonization in women heterozygous for IFAP syndrome (ichthyosis follicularis with atrichia and photophobia). 61
10398262 1999
45
Ocular findings in ichthyosis follicularis, atrichia, and photophobia syndrome. 61
10326971 1999
46
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropathological observations in a 33-year-old man. 61
9714442 1998
47
Child with manifestations of dermotrichic syndrome and ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome. 61
1456297 1992
48
Further delineation of the ichthyosis follicularis, atrichia, and photophobia syndrome. 61
1915513 1991

Variations for Ichthyosis Follicularis Atrichia Photophobia Syndrome

Expression for Ichthyosis Follicularis Atrichia Photophobia Syndrome

Search GEO for disease gene expression data for Ichthyosis Follicularis Atrichia Photophobia Syndrome.

Pathways for Ichthyosis Follicularis Atrichia Photophobia Syndrome

GO Terms for Ichthyosis Follicularis Atrichia Photophobia Syndrome

Sources for Ichthyosis Follicularis Atrichia Photophobia Syndrome

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