IFAP syndrome is an extremely rare genetic syndrome. It is also known as Ichthyosis follicularis, alopecia, and photophobia syndrome or simply ichthyosis follicularis.
[James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. .] It is extremely rare: there were only 40 known cases (all male) until 2011.
Symptoms and signs
The main symptoms are given by its name: dry, scaly skin (
ichthyosis
Ichthyosis is a family of genetic skin disorders characterized by dry, thickened, scaly skin. The more than 20 types of ichthyosis range in severity of symptoms, outward appearance, underlying genetic cause and mode of inheritance (e.g., dominan ...
), absence of hair (atrichia) and excessive sensitivity to light (
photophobia
Photophobia is a medical symptom of abnormal intolerance to visual perception of light. As a medical symptom photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the eyes due to light exposure or by presence of ...
). Additional features include short stature, mental retardation, seizures and a tendency for respiratory infections.
[OMIM (Online Mendelian Inheritance in Man), Johns Hopkins University]
Ichthyosis follicularis, atrichia and photophobia
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Genetics
Most cases are X-linked recessive
X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males (who are necessarily homozygous for the gene mutation because they have one X and one Y ...
but there may be as many as three types. As well as a classical X-linked form, there is another type where females are partially affected and another where females have full IFAP symptoms. The gene or genes causing this disease are not known.
Diagnosis
Diagnosis is based on appearance and family history. KID syndrome
Kid, Kids, KIDS, and K.I.D.S. may refer to:
Common meanings
* Colloquial term for a child or other young person
** Also for a parent's offspring regardless of age
* Engage in joking
* Young goats
* The goat meat of young goats
* Kidskin, lea ...
or keratosis follicularis spinulosa decalvans
Keratosis follicularis spinulosa decalvans is a rare X-linked disorder described by Siemens in 1926. It is a disease that begins in infancy with keratosis pilaris localized on the face, then evolves to more diffuse involvement.James, William; Ber ...
have some similar symptoms and must be eliminated.[Boente M del, Bibas-Bonet H, Coronel AM, Asial RA]
Atrichia, ichthyosis, follicular hyperkeratosis, chronic candidiasis, keratitis, seizures, mental retardation and inguinal hernia: a severe manifestation of IFAP syndrome?
European Journal of Dermatology. Volume 10, Number 2, 98-102, March 2000
See also
*Cicatricial alopecia
Scarring hair loss, also known as cicatricial alopecia, is the loss of hair which is accompanied with scarring. This is in contrast to non scarring hair loss.
It can be caused by a diverse group of rare disorders that destroy the hair follicle, ...
* List of cutaneous conditions
Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands. The major function of this system is as a barrier against t ...
References
{{Medical resources
, DiseasesDB =
, ICD10 = {{ICD10, Q, 80, 3, q, 80
, ICD9 =
, ICDO =
, OMIM = 308205
, MedlinePlus =
, eMedicineSubj =
, eMedicineTopic =
, MeshID =
, Orphanet = 2273
Genodermatoses
Rare diseases
Syndromes