Ichthyosis follicularis with atrichia and photophobia syndrome;Ichthyosis follicularis met atrichie en fotofobie syndroom

Nederlands Tijdschrift voor Dermatologie en Venereologie

Volumn 20, Issue 5, 2010, Pages 242-244

  Vellinga, Douwe ^a   Hoefnagel, J J ^b   Bijlsma, E K ^a   Lavrijsen, A P M ^a   Bouwes Bavinck, J N ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ONZE LIEVE VROUWE GASTHUIS   (Netherlands)

Author keywords

Alopecia; Atrichia; Ichthyosis follicularis; Photophobia

Indexed keywords

ALOPECIA; ARTICLE; CASE REPORT; EPILEPSY; EYELID DISEASE; FACE; GENE; GENE MUTATION; HUMAN; HYPERKERATOSIS; ICHTHYOSIS; ICHTHYOSIS FOLLICULARIS WITH ATRICHIA AND PHOTOPHOBIA SYNDROME; INFANT; LIMB; MBTPS2 GENE; PALLIATIVE THERAPY; PHOTOPHOBIA; SCALP; SKIN DEFECT; TREATMENT OUTCOME;

EID: 78249276884     PISSN: 09258604     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. McLeod JMH. Three cases of 'ichthyosis follicularis' associated with baldness. Br J Dermatol 1909;21:165-89.
2. Mégarbané H, Zablit C, Waked N, Lefranc G, Tomb R, Mégarbané A. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: report of a new family with additional features and review. Am J Med Genet A 2004;30:323-7.
3. Tsolia M, Aroni K, Konstantopoulou I, Karpathios T, Tsoukatou T, Paraskevakou H et al. Ichthyosis follicularis with alopecia and photophobia in a girl with cataract: histological and electron microscopy findings. Acta Derm Venereol 2005;85(1):51-5.
4. Cambiaghi S, Barbareschi M, Tadini G. Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome in two unrelated female patients. J Am Acad Dermatol 2002;46:S156-8.
5. Rothe MJ, Weiss DS, Dubner BH, Weitzner JM, Lucky AW, Schachner L. Ichthyosis follicularis in two girls: an autosomal dominant disorder. Pediatr Dermatol 1990;7(4):287-92.
6. Khandpur S, Bhat R, Ramam M. Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome treated with acitretin. J Eur Acad Dermatol Venereol 2005;19(6):759-62.
7. Ming A, Happle R, Grzeschik KH, Fischer G. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome due to mutation of the gene MBTPS2 in a large Australian kindred. Pediatr Dermatol 2009;26(4):427-31.
8. Oeffner F, Fischer G, Happle R, König A, Betz RC, Bornholdt D et al. IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response. Am J Hum Genet 2009;84(4):459-67.
9. Sato-Matsumura KC, Matsumura T, Kumakiri M, Hosokawa K, Nakamura H, Kobayashi H, et al. Ichthyosis follicularis with alopecia and photophobia in a mother and daughter. Br J Dermatol 2000;142(1):157-62. (Pubitemid 30074490)
10. König A, Happle R. Linear lesions reflecting lyonization in women heterozygous for IFAP syndrome (ichthyosis follicularis with atrichia and photophobia). Am J Med Genet 1999;85(4):365-8.