Ichthyosis Follicularis With Alopecia and Photophobia

Eramo, Lynne R.; Esterly, Nancy B.; Zieserl, Edward; Stock, Emmelie; Herrmann, Jergen

doi:10.1001/archderm.1985.01660090081019

Cited by 77 publications

(60 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Characteristics of the IFAP syndrome are cutaneous manifestations such as significant xerosis and follicular papules (6) . Total alopecia and, in some cases, thin and sparse hair are also a finding in this syndrome 1 .…”

Section: Discussionmentioning

confidence: 99%

“…The ocular findings are photophobia, corneal scars, punctate keratopathy, corneal erosion, allergic keratoconjunctivitis, superficial and deep corneal neovascularization, horizontal nystagmus, and myopia (1,(5)(6) . Myopia appears to be caused by deprivation of the adequate growth of the eyeball (1,6) .…”

Section: Discussionmentioning

confidence: 99%

“…Myopia appears to be caused by deprivation of the adequate growth of the eyeball (1,6) . Corneal changes are caused by modification of the tear film and recurrent atopic keratoconjunctivitis (1,6) . Photophobia may exist since birth or may have developed later (1,6) .…”

Section: Discussionmentioning

confidence: 99%

“…Corneal changes are caused by modification of the tear film and recurrent atopic keratoconjunctivitis (1,6) . Photophobia may exist since birth or may have developed later (1,6) . Vision is generally low (5) and appears to be due to central leucoma.…”

Section: Discussionmentioning

confidence: 99%

See 3 more Smart Citations

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

Höpker

Ribeiro

Oliveira

et al. 2011

Arq. Bras. Oftalmol.

View full text Add to dashboard Cite

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

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

Höpker

Ribeiro

Oliveira

et al. 2011

Arq. Bras. Oftalmol.

View full text Add to dashboard Cite

“…1 X-linked recessive transmission has been suggested for this syndrome because most patients are male, 2 and the full phenotype is found only in males. 3,4 Oeffner et al 5 performed a linkage analysis using two families of European descent, in which IFAP segregated according to an X-linked pattern of transmission. They identified five missense mutations in the membrane-bound transcription factor protease, site 2 gene (MBTPS2; MIM 300294) encoding a membrane-embedded zinc metalloprotease that activates signaling proteins involved in the endoplasmic reticulum stress response and in the sterol control of transcription.…”

Section: Introductionmentioning

confidence: 99%

A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation

et al. 2010

View full text Add to dashboard Cite

Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia and photophobia. Previous studies have identified five missense mutations in the membranebound transcription factor protease, site 2 (MBTPS2) gene in European patients with this syndrome. In this study, we detected the 1286G4A (Arg429His) mutation in MBTPS2 in a Japanese patient with IFAP syndrome. This mutation has previously been detected in a German family with this syndrome. Functional analysis revealed that this mutation was the most severe mutation identified to date for this syndrome. None of the male German patients had been tested for the mutation because they had several visceral and bone anomalies, and had died as neonates or infants. The clinical features of our 5-year-old patient are less severe than those of the German patients. Although he has neurological abnormalities, such as retarded psychomotor development and seizures, he does not have bone or visceral anomalies, except cryptorchidism. This case indicates the existence of other factor(s) that influence the clinical features of this syndrome. Further clinical and genetic studies are required to clarify the relationship between phenotypes and genotypes and to identify such modifying factors.

show abstract

Keratosis pilaris atrophicans. One heterogeneous disease or a symptom in different clinical entities?

Oranje¹

1994

Archives of Dermatology

View full text Add to dashboard Cite

IN this issue of the Archives, Baden and Byers1 describe 21 cases of keratosis pilaris atrophicans (KPA). He considers KPA as one disease entity.1 However, our opinion differs in view of the arguments presented here. Keratosis pilaris (KP) is a skin symptom associated with different diseases, mostly of ectodermal origin. By definition, keratinous plugs are observed in the follicular orifices surrounded by a variable degree of erythema. When the keratotic papules are followed by atrophy, one speaks of KPA. Atrophy is preceded with or without inflammation. There is much confusion on KP and KPA entities, especially because different overlapping syndromes have been described and many synonyms are used in both dermatologic and genetic literature.2-4 In this editorial, we present our opinion and arguments on diseases with KPA. KERATOSIS PILARIS ATROPHICANS We distinguish four distinct clinical entities that show KPA. These are keratosis pilaris atrophicans faciei (KPAF), atrophoderma vermiculata, keratosis follicularis spinulosa decalvans (KFSD), and, as proposed, folliculitis spinulosa decalvans.3 Rand and Arndt3 believe that these forms are different stages of a single process of KPA. Baden and Byers1 also propose that KPAF, atrophoderma vermicu¬ lata, and KFSD should be headed under KPA. Baden and

show abstract

Ichthyosis Follicularis With Alopecia and Photophobia

Cited by 77 publications

References 19 publications

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

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

A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation

Keratosis pilaris atrophicans. One heterogeneous disease or a symptom in different clinical entities?

Contact Info

Product

Resources

About