Presentation
Table 2 Major conditions in which ichtyosis and alopecia are both present (14). [ojrd.biomedcentral.com]
Generalized follicular hyperkeratosis is present on the scalp, dorsal surface of the limbs and on the abdomen. Most patients are completely bald. [disorders.eyes.arizona.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]
Virdi VS, Cheema AS (2003) Neonatal Hirschsprung disease with multicystic dysplastic kidneys presenting as multiple gastrointestinal perforations. Trop Gastroenterol 24:99–101 PubMed Google Scholar 35. [link.springer.com]
Entire Body System
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Recurrent Respiratory Infections
respiratory infections in infancy, cataracts in childhood, and fibrocystic lung disease in adulthood [ 27 ]. [ojrd.biomedcentral.com]
Respiratoric
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Respiratory Disorders
They can be differentiated mainly on the basis of nail, skeletal, and intestinal anomalies, hypohidrosis, and megacolon present in the dermotrichic syndrome and ocular and respiratory disorders in the IFAP syndrome. [ojrd.biomedcentral.com]
Skin
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Alopecia
Table 2 Major conditions in which ichtyosis and alopecia are both present (14). [ojrd.biomedcentral.com]
Systemic Features: Dry, scaly skin and alopecia are usually evident at birth. There is marked absence of hair throughout the body. The skin is generally ichthyotic and erythematous, with continuous lamellar desquamation of surface skin. [disorders.eyes.arizona.edu]
Non-cicatricial complete body alopecia is also a classical feature. Variable degrees of a collodion membrane may be present in newborns. [orpha.net]
It is also known as Ichthyosis follicularis, alopecia, and photophobia syndrome or simply ichthyosis follicularis. [2] : 564 It is extremely rare: there were only 10 known cases (all male) in 1998. [3] Symptoms [ edit ] The main symptoms are given by [en.wikipedia.org]
Martino F, D’Eufemia P, Pergola MS et al (1992) Child with manifestations of dermotrichic syndrome and ichthyosis follicularis–alopecia–photophobia (IFAP) syndrome. [link.springer.com]
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Dry, Scaly Skin
Systemic Features: Dry, scaly skin and alopecia are usually evident at birth. There is marked absence of hair throughout the body. The skin is generally ichthyotic and erythematous, with continuous lamellar desquamation of surface skin. [disorders.eyes.arizona.edu]
scaly skin ( ichthyosis ), absence of hair (atrichia) and excessive sensitivity to light ( photophobia ). [en.wikipedia.org]
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Skin Lesion
They did not have linear distribution of skin lesions, suggesting an autosomal dominant mode of transmission. Thus, besides X-linked recessive inheritance, an autosomal dominant mode of inheritance could be present. [ojrd.biomedcentral.com]
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Cutaneous Manifestation
Cutaneous manifestations Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. [ojrd.biomedcentral.com]
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Sweating
Histopathology 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 normal sweat glands. [ojrd.biomedcentral.com]
Treatment
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]
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]
Resulting publications were reviewed for epidemiology, genetic testing, operative treatment and morbidity. Reference lists were screened for additional cases. [link.springer.com]
Prognosis
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]
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]
Prognosis Life expectancy in patients with IFAP syndrome can vary from death in the neonatal period to normal surviving. The oldest reported patient was 33 years old [ 10 ]. Cardiopulmonary complications were the main cause of death. [ojrd.biomedcentral.com]
Etiology
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]
Passarge E (1967) The genetics of Hirschsprung’s disease: evidence for heterogeneous etiology and a study of sixty-three families. [link.springer.com]
Etiology IFAP syndrome results from missense mutations in the membrane-bound transcription factor protease site 2 ( MBTPS2 ) gene [ 17 ]. [ojrd.biomedcentral.com]
Epidemiology
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]
Resulting publications were reviewed for epidemiology, genetic testing, operative treatment and morbidity. Reference lists were screened for additional cases. [link.springer.com]
Epidemiology The association of ichthyosis follicularis, atrichia, and photophobia was first reported as a syndrome by MacLeod in 1909 in three boys [ 1 ]. [ojrd.biomedcentral.com]