Ichthyosis Follicularis

Zeligman, Israel

doi:10.1001/archderm.1959.01560220023005

Cited by 27 publications

(19 citation statements)

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“…Since then a little more than 40 patients have been reported with also additional features (Table 1) [2-22]. …”

Section: Epidemiologymentioning

confidence: 99%

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome

Mégarbané

2011

Orphanet J Rare Dis

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The IFAP syndrome is a rare X-linked genetic disorder reported in nearly 40 patients. It is characterized by the triad of Ichthyosis Follicularis, Alopecia, and Photophobia from birth. Other features such as short stature, intellectual disability, and seizures may develop in the first few years of life. Skin histopathology is non-specific and consists of dilated hair follicles with keratin plugs extending above the surface of the skin, decreased or absent sebaceous glands, and decreased desmosomes in number and size. The disorder results from mutations in the MBTPS2 gene that impairs cholesterol homeostasis and the ability to cope with endoplasmic reticulum stress. Follicular hyperkeratosis can be treated using topical keratolytics, emollients and urea preparations. A moderate response to acitretin therapy has been noted in some patients. Intensive lubrication of the ocular surface is essential. Life expectancy in patients with IFAP syndrome can vary from death in the neonatal period to normal surviving. Cardiopulmonary complications remain the major cause of death.

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“…Since then a little more than 40 patients have been reported with also additional features (Table 1) [2-22]. …”

Section: Epidemiologymentioning

confidence: 99%

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome

Mégarbané

2011

Orphanet J Rare Dis

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“…Additional reports were published by Zeligman and Fleischer [1959], Eramo et al [1985], and Hamm et al [1991]. A further report described IFAP manifestations with "dermotrichic syndrome" [Martino et al, 1992].…”

Section: Discussionmentioning

confidence: 99%

“…Moreover, the filiform follicular hyperkeratoses are very characteristic. Their thorn-like appearance has been likened to a "nutmeg grater" [Zeligman and Fleischer, 1959;Eramo et al, 1985]. Less constant are retardation of growth and motor development, proneness to respiratory infections, febrile seizures, and ocular complications.…”

Section: Discussionmentioning

confidence: 99%

Linear lesions reflecting lyonization in women heterozygous for IFAP syndrome (ichthyosis follicularis with atrichia and photophobia)

König

Happle

1999

Am. J. Med. Genet.

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A diagnosis of IFAP (ichthyosis follicularis with atrichia and photophobia) syndrome was established in a 1-year-old boy with congenital hairlessness, generalized ichthyotic skin changes with follicular hyperkeratoses, and photophobia. IFAP syndrome is considered to be an X-linked recessive trait. The phenotype present in female carriers has so far not been delineated. A 2-year-old sister had atrophoderma and ichthyotic skin lesions arranged in a linear pattern and a large noncicatrical bald patch on her scalp. Similarly, the mother had linear lesions of scaling and atrophy as well as circumscribed hairless areas involving the scalp, the axillary region, and the lower legs. Sweat testing by means of iodine starch-reaction visualized hypohidrotic linear lesions corresponding to the areas of hyperkeratosis and atrophy. In both mother and daughter the lesions followed the lines of Blaschko, whereas the boy was diffusely affected. Family history showed that the boy's maternal uncle who had died at age 1 year was likewise affected with the same disorder. Moreover, the maternal grandmother had reportedly bald patches on her scalp and very dry skin. This is the first report to document linear skin lesions visualizing lyonization in women heterozygous for IFAP syndrome.

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“…In a case of less marked ectodermal dysplasia, showing hypotrichia and anomaly of the nails, Iladida and Beranger (1950) mentioned numerous milia on a large part of the body. Oliver and Gilbert (1926) and recently Zeligman and Fleisher (1959) pointed out th at the picture described as ichthyosis follicularis is a type of congenital ectodermal defect, characterized by atrichia or hypotrichia and absence of sebaceous glands. In these misnamed cases keratotic follicular papules are predominant.…”

Section: Introductionmentioning

confidence: 99%