Edit concept Question Editor Create issue ticket

Ichthyosis Follicularis - Alopecia - Photophobia Syndrome

IFAP Syndrome


  • Prahlad H (2017) Oral cavity squamous cell carcinoma in a case of ichthyosis follicularis, alopecia, and photophobia syndrome with chronic myeloid leukemia on long-term hydroxyurea: a rare presentation.[eprints.manipal.edu]
  • 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.[orpha.net]
  • We report this rare case of IFAP with atypical presentation and it was interesting to note that alopecia in this child was confined to eyebrows; this unique presentation has not been described earlier.[ncbi.nlm.nih.gov]
  • Corneal infiltration was present at the level of epithelium and sub-epithelium [Figure 2].[ijmr.org.in]
  • She is asymptomatic at present. Keywords: Ichthyosis follicularis, alopecia and photophobia syndrome, meibomian gland dysfunction, ocular invovement How to cite this article: Fatima T, Mathur U, Acharya M.[ijo.in]
Gingival Recession
  • He had madarosis, absent eye brows, mandibular prognathism, gingival recession with hypodontia, but without any hearing problems, with similar problems in few male members of family.[urbanedge.co.in]
Nummular Dermatitis
  • With nummular dermatitis, round, pustular lesions commonly ooze purulent exudate, itch severely, and rapidly become encrusted and scaly. Lesions appear on the extensor surfaces of the limbs, posterior trunk, and buttocks.[checkorphan.org]
High Forehead
  • She had very severe photophobia, non-scarring ichthyosis, total alopecia, high forehead, large ears and angular stomatitis - all features that has been found in cases of IFAP syndromes reported till date.[ijo.in]
Mandibular Prognathism
  • He had madarosis, absent eye brows, mandibular prognathism, gingival recession with hypodontia, but without any hearing problems, with similar problems in few male members of family.[urbanedge.co.in]


  • Many chapters have been completely revised to reflect the latest treatment recommendations, procedures and therapeutic guidelines.[books.google.com]
  • Treatment Treatment Options: No effective treatment is known. References Article Title: MBTPS2 mutation causes BRESEK/BRESHECK syndrome Naiki M, Mizuno S, Yamada K, Yamada Y, Kimura R, Oshiro M, Okamoto N, Makita Y, Seishima M, Wakamatsu N.[disorders.eyes.arizona.edu]
  • Her symptoms improved after adequate treatment of meibomian gland dysfunction. She is asymptomatic at present.[ijo.in]
  • This eye had greater epithelium erosion and worse response to the previous treatment.[scielo.br]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]


  • 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.[orpha.net]
  • Ichthyosis follicularis atrichia photophobia syndrome Home medical testing related to Ichthyosis follicularis-atrichia-photophobia syndrome: Concentration -- Home Testing ADHD -- Home Testing Mental Health: Home Testing: Home Emotional Stress Tests Prognosis[checkorphan.org]
  • Depending upon how extensive the organ involvement, the prognosis is usually guarded and patients may not live beyond early childhood. It is uncertain if IFAP refers to a single disorder or if two disorders are involved (see Genetics).[disorders.eyes.arizona.edu]


  • McKee's Pathology of the Skin is the most complete, in-depth resource on dermatopathology, covering etiology, pathogenesis, disease mechanisms, and recent genetic, molecular, and basic science data. Drs. J.[books.google.com]
  • 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.[orpha.net]


  • Summary Epidemiology Prevalence is unknown. Approximately 40 cases have been reported to date. IFAP primarily affects male subjects. Female carriers may develop some clinical features.[orpha.net]
  • Differential diagnoses are made with otherwise rare diseases and several clinical and epidemiological characteristics must be considered ( Table 1 ).[scielo.br]
Sex distribution
Age distribution


  • Rated 0 Patient case no. 10991 Date added 03 June 2011 Patient details Age Child Location India Localisation Trunk / entire trunk Description Primary Lesions loss of hair from eyebrows(atrichia),ichthyosis follicularis all over body and photophobia Pathophysiology[dermquest.com]


  • This helps prevent dryness, scaling, cracking and build-up of skin.[diseaseinfosearch.org]
  • Prevention - Ichthyosis follicularis atrichia photophobia syndrome Not supplied.[checkorphan.org]
  • After that, the use of therapeutic contact lenses was an option but the frequent lens drop-out prevented their use. So, a permanent occlusion of the lower lachrymal point of both eyes was performed with mild bilateral corneal erosion improvement.[scielo.br]
  • Your skin Holds body fluids in, preventing dehydration Keeps harmful microbes out, preventing infections Helps you feel things like heat, cold, and pain Keeps your body temperature even Makes vitamin D when the sun shines on it Anything that irritates[icdlist.com]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!