Disease #05764 (IFAP (ichthyosis, follicular, with atrichia and photophobia syndrome))

Official abbreviation IFAP
Name ichthyosis, follicular, with atrichia and photophobia syndrome
OMIM ID -
Inheritance -
Individuals reported having this disease 34
Phenotype entries for this disease 34
Associated with 2 genes MBTPS2, SREBF1
Associated tissues -
Disease features -
Remarks -
Date created 2020-06-08 19:40:11 +02:00 (CEST)
Date last edited 2025-09-22 12:54:03 +02:00 (CEST)


Individuals

34 entries on 1 page. Showing entries 1 - 34.
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00303244 Fam1PatIII-3 PubMed: Wang 2020, Journal: Wang 2020 3-generation family, 4 affected (3F, M), unaffected non-carrier parents F - China - - - - - IFAP severe hypotrichosis; ichthyosis follicularis; photophobia, Meibomian gland dysfunction, keratitis, nystagmus, cataract, strabismus SREBF1 SREBF1 1 4 Johan den Dunnen
00303245 Fam1PatIV-1 PubMed: Wang 2020, Journal: Wang 2020 daughter F - China - - - - - IFAP moderate hypotrichosis; ichthyosis follicularis; photophobia, Meibomian gland dysfunction, keratitis, nystagmus, cataract, strabismus SREBF1 SREBF1 1 1 Johan den Dunnen
00303246 Fam2PatII-7 PubMed: Wang 2020, Journal: Wang 2020 2-generation family, 2 affected (2F), unaffected non-carrier parents F - China - - - - - IFAP atrichia; ichthyosis follicularis, mild periorificial erythema; photophobia, Meibomian gland dysfunction, keratitis, cataract, strabismus SREBF1 SREBF1 1 2 Johan den Dunnen
00303247 Fam2PatIII-2 PubMed: Wang 2020, Journal: Wang 2020 daughter F - China - - - - - IFAP severe hypotrichosis; ichthyosis follicularis, mild periorificial erythema; photophobia, Meibomian gland dysfunction, keratitis, cataract, strabismus SREBF1 SREBF1 1 1 Johan den Dunnen
00303248 Individual 3 PubMed: Wang 2020, Journal: Wang 2020 2-generation family, 1 affected, unaffected non-carrier parents M - China - - - - - IFAP atrichia; ichthyosis follicularis, nail dystrophy, periorificial hyperkeratosis, hyperkeratotic plaques on Achilles tendon, knee and dorsal hands; photophobia, Meibomian gland dysfunction, cataract SREBF1 SREBF1 1 1 Johan den Dunnen
00303249 Individual 4 PubMed: Wang 2020, Journal: Wang 2020 2-generation family, 1 affected, unaffected non-carrier parents M - China - - - - - IFAP severe hypotrichosis; mild ichthyosis follicularis, angular cheilitis; photophobia, Meibomian gland dysfunction, cataract, xerophthalmia SREBF1 SREBF1 1 1 Johan den Dunnen
00303250 Individual 5 PubMed: Wang 2020, Journal: Wang 2020 2-generation family, 1 affected, unaffected non-carrier parents M - China - - - - - IFAP atrichia; ichthyosis follicularis; photophobia SREBF1 SREBF1 1 1 Johan den Dunnen
00303251 Individual 6 PubMed: Wang 2020, Journal: Wang 2020 2-generation family, 1 affected, unaffected parents M - Germany - - - - - IFAP severe hypotrichosis, depigmented scalp hair variation in hair caliber; generalized ichthyosis follicularis; photophobia, recurrent conjunctivides, corneal keratosis and hypervascularisation SREBF1 SREBF1 1 1 Johan den Dunnen
00303252 Individual 7 PubMed: Wang 2020, Journal: Wang 2020 2-generation family, 1 affected, unaffected parents M - Congo - - - - - IFAP atrichia; ichthyosis follicularis mainly on the trunk; Meibomian gland dysfunction, recurrent keratoconjuncitivits, progressive corneal opacification and neovessels, vision loss SREBF1 SREBF1 1 1 Johan den Dunnen
00303253 Individual 8 PubMed: Wang 2020, Journal: Wang 2020 2-generation family, 1 affected, unaffected parents M - Italy - - - - - IFAP see paper; ... SREBF1 SREBF1 1 1 Johan den Dunnen
00303254 Individual 9 PubMed: Wang 2020, Journal: Wang 2020 2-generation family, 1 affected, unaffected parents M - United States African American - - - - IFAP extensive non-scarring atrichia of the temporal and parietal scalp; sparse short (<2 cm), black hairs preserved over the vertex and occiput; diffuse hypotrichosis of eyebrows and eyelids; ichthyosis follicularis with psoriaform plaques involving upper and lower extremities and scalp; widespread thorn-like punctate follicular projections; angular chelitis; photophobia, severe Meibomian gland dysfunction, corneal pannus, amblyopia SREBF1 SREBF1 1 1 Johan den Dunnen
00303255 Individual 10 PubMed: Wang 2020, Journal: Wang 2020 2-generation family, 1 affected, unaffected non-carrier parents F - Austria - - - - - IFAP moderate hypotrichosis; no ichthyosis follicularis; photophobia, Meibomian gland dysfunction, keratitis, congenital cataract SREBF1 SREBF1 1 1 Johan den Dunnen
00303256 Individual 11 PubMed: Wang 2020, Journal: Wang 2020 2-generation family, 1 affected, unaffected non-carrier parents F - India - - - - - IFAP atrichia, mild facial hypertrichosis; recurrent oral and genital ulcers, gingival erosions; bilateral corneal ulcers and blue dot cataract in the right eye SREBF1 SREBF1 1 1 Johan den Dunnen
00466664 patient PubMed: Araujo 2015 - M - Portugal - - - - - IFAP see paper; ..., birth35w+5, weight 1570 g; 3m-universal alopecia; skin phototype II, no scalp hair, no eyebrows, no eyelashes; prominent forehead, large ears, generalized dryness skin, follicular papules/pustules on erythematous base scattered on trunk/upper and lower limbs MBTPS2 MBTPS2 1 1 Johan den Dunnen
00466665 patient PubMed: Fong 2015 2-generation family, 1 affected, unaffected carrier mother M - United Kingdom (Great Britain) - - - - - IFAP see paper; ..., 5y-hair loss, roughened skin texture; birth no eyebrows, no eyelashes, normal scalp hair; photophobia; no intellectual disability MBTPS2 MBTPS2 1 1 Johan den Dunnen
00466667 patient PubMed: Pietrzak 2012 2-generation family, 1 affected, unaffected carrier mother/grandmother M - Poland - - - - - IFAP see paper; ..., ichthyosis, follicular, atrichia, photophobia, syndromepsoriasiform skin plaques, nail dystrophy, facial dysmorphy, mental retardation, severe skeletal abnormalities, chorea-like movements MBTPS2 MBTPS2 1 1 Johan den Dunnen
00466669 patient PubMed: Nakayama 2011 2-generation family, 1 affected, unaffected carrier mother M - Japan - - - - - IFAP see paper; ..., fetal intrauterine growth retardation; birth 37w; 2y-seizures, severe mental retardation, severe growth retardation MBTPS2 MBTPS2 1 1 Johan den Dunnen
00466670 patient PubMed: Wang 2013 2-generation family, 1 affected, unaffected carrier mother M - China - - - - - IFAP see paper; ..., ichthyosis, alopecia, photophobia, short stature, inguinal hernia, palmoplantar keratoderma, periorificial keratoderma, pachyonychia - MBTPS2 1 1 Johan den Dunnen
00466671 patient PubMed: Izumi 2013 2-generation family, 1 affected, unaffected carrier mother M - United States - - - - - IFAP see paper; ..., 34w-birth, weight 10th-25th centile, height <10th centile, no hair, eczematous scaling erythema, xerosis with spiny follicular hyperkeratosis; frequent scalp skin infection; 11m-seizures; photosensitivity no eye anomalies; global developmental delay MBTPS2 MBTPS2 1 1 Johan den Dunnen
00466674 patient PubMed: Ferrari 2017 - M - Argentina - - - - - IFAP see paper; ..., collodion baby, congenital hypothyroidism, cutaneous signs present since birth; spiny hyperkeratotic papules on scalp, ears, cheeks, elbows, and knees; periungual erythema on hands, generalized alopecia, photophobia; facial dysmorphism, atopic dermatitis-like lesions, plantar keratoderma MBTPS2 MBTPS2 1 1 Johan den Dunnen
00466675 family PubMed: Nemer 2017 family, 2 affected brothers M - Lebanon - - - - - IFAP see paper; ..., total non-scarring alopecia, follicular ichthyosis trunk, generalized psoriasiform plaques, developmental delay, recurrent seizures, osteoporosis, renal insufficiency; younger brother ectrodactyly MBTPS2 MBTPS2 1 1 Johan den Dunnen
00466676 patient PubMed: Yang 2019 3-generation family, 1 affected, 3 unaffected carrier females M - China - - - - - IFAP see paper; ..., 3m-gradual loss hair/eyebrows/eyelashes; follicular papules on scalp/ears/neck, dry skin, ichthyotic scales, mild photophobia MBTPS2 MBTPS2 1 1 Johan den Dunnen
00466677 patient PubMed: Chen 2020 2-generation family, 1 affected, unaffected non-carrier parents M - China - - - - - IFAP see paper; ..., ichthyotic scaling, no hair, mild photophobia; mild xerosis, follicular hyperkeratosis - MBTPS2 1 1 Johan den Dunnen
00466678 patient PubMed: Jiang 2019 2-generation family, 1 affected, unaffected carrier mother M - China - - - - - IFAP see p`per; ..., diffuse follicular hyperkeratosis, alopecia, photophobia; 3m-no hair, no eyelashes, no eyebrows - MBTPS2 1 1 Johan den Dunnen
00466705 family PubMed: Khan 2019 2-generation family, 2 affected brothers, carrier mother M - United Arab Emirates - - - - - IFAP see paper; ..., congenital alopecia, microcephaly, dermatitis; seizures, neurodevelopmental regression; wheelchair-bound, tube-feeding diet, nonresponsive to verbal command; superficial punctate keratopathy in central band distribution, myopia, central optic nerve head large cupping; mother retinal venous tortuosity MBTPS2 MBTPS2 1 2 Johan den Dunnen
00466706 FamPatIV8 PubMed: Basilious 2020 4-generation family, 8 affected, 5carrier females M - Canada - - - - - IFAP see paper; ..., ichthyotic skin, Hirschsprung disease, atrial septal defects,syrinx at cervicomedullary junction; hyperkeratotic eyelids, madarosis, lagophthalmos,otherwise clear corneas; bilateral central corneal epithelial defects; bilateral limbal thickening, peripheral corneal pannus with underlying stromal scarring, late fluorescein staining corneal surface; abnormal hyperreflective epithelial surface overlying thinned corneal stroma MBTPS2 MBTPS2 1 8 Johan den Dunnen
00466707 patient PubMed: Murase 2020 - F - China - - - - - IFAP see paper; ..., brith dry skin, localized non-progressive non-scarring alopecia; 3y-hyperkeratosis feet; pronounced keratosis Achilles tendon; plantar keratoderma with transgrediens, ungual dysplasia; keratosis pilaris trunk/arms/legs.; esotropia, amblyopia, no photophobia; normal dentition, no intellectual disability; normal eyebrows, normal eyelashes - MBTPS2 1 1 Johan den Dunnen
00466710 Fam1Pat PubMed: Irurzun 2021 2-generation family, 1 affected, unaffected carrier mother M - Argentina - - - - - IFAP see paper; ..., 2y-congenital alopecia, follicular keratosis, photophobia; global developmental delay; absence seizures; diffuse non-scarring alopecia scalp/eyebrows, normal eyelashes MBTPS2 MBTPS2 1 1 Johan den Dunnen
00466842 patient PubMed: Chen 2023 2-generation family, 1 affected, unaffected carrier mother M - China - - - - - IFAP see paper; ..., hair loss, painful hyperkeratotic lesions, birth sparse scalp hair; periodic high fevers caused by recurrent infections, rough skin, photophobia; palmoplantar keratoderma; 29y-no scalp hair, eyebrows, no eyelashes, dry skin, rough body skin, diffuse follicular hyperkeratosis scalp/trunk, photophobia, myopia , periorificial keratotic plaques mouth, anal palmoplantar keratoderma, nail dystrophy with pachyonychia, normal hearing, normal sweating, normal mucosa, no short stature, no seizures, no inguinal hernia MBTPS2 MBTPS2 1 1 Johan den Dunnen
00466843 patient PubMed: Shin 2022 2-generation family, 1 affected, unaffected carrier mother M - Korea - - - - - IFAP see paper; ..., birth alopecia, persistent ichthyosis, scanty scalp hair/eyebrows, generalized dryness/roughness whole-body skin MBTPS2 MBTPS2 1 1 Johan den Dunnen
00466844 patient PubMed: Rubaian 2023 2-generation family, 1 affected, unaffected carrier mother M - Saudi Arabia - - - - - IFAP see paper; ..., alopecia scalp/eyebrows/eyelashes, mild generalized xerosis, photophobia, ecurrent angular cheilitis; normal developmental milestones MBTPS2 MBTPS2 1 1 Johan den Dunnen
00466845 Pat1 PubMed: Caengprasath 2023 3-generation family, 1 affected, unaffected carrier mother/grandmother M - Thailand - - - - - IFAP see paper; ..., 35w-birth, severe intrauterine growth failure, hydrocephaly, posterior meningocele; 3y-diffuse xerosis, persistent follicular keratosis scalp, corkscrew-like hair, delayed occipital development, severe global developmental delay, inability to walk, measurements below SD weight/height/OFC, able to sit/babble/engage in positive social interactions, MRI brain dysgenesis corpus callosum MBTPS2 MBTPS2 1 1 Johan den Dunnen
00466846 Pat2 PubMed: Caengprasath 2023 2-generation family, 1 affected, unaffected carrier mother M - Thailand - - - - - IFAP see paper; ..., birth symmetric papules; infancy hair loss, photophobia, corneal edema, abrasion, conjunctivitis, superficial punctate keratitis; bilateral subepithelial fibrovascular tissue ingrowth cornea; 4y-sparse eyebrows/eyelashes, non-scarring alopecia - GJB6, MBTPS2 2 1 Johan den Dunnen
00466847 patient PubMed: Migliavacca 2023 2-generation family, 1 affected, unaffected non-carrier parents M - Brazil - - - - - IFAP see paper; ..., birth severe cutaneous abnormality with collodion membrane, congenital ichthyosis with taut skin face, eclabium, ectropion, microcephaly, cryptorchidism, flattened rudimentary ears, no scalp hair, no eyebrows, no eyelashes., upper limb malformations, no right hand, bilateral shortening ulna with radius aplasia, fixed elbows, oligodactyly right hand with only fifth digit present, left foot with absence fourth digit - ITGB4, MBTPS2 3 1 Johan den Dunnen
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