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]

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]

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]

• Inguinal Hernia

  hernia), as well as renal, cardiac and vertebral anomalies can be present. [orpha.net]

  Intestinal anomalies such as omphalocele, Hirschsprung disease, congenital aganglionic megacolon, stenosis of the small intestine, and inguinal hernia, renal, cardiac and vertebral anomalies, and cleft hands have been reported [ 14, 17 ]. [ojrd.biomedcentral.com]

• Recurrent Respiratory Infections

  respiratory infections in infancy, cataracts in childhood, and fibrocystic lung disease in adulthood [ 27 ]. [ojrd.biomedcentral.com]

• Progressive Loss of Vision

  Superficial corneal ulceration and vascularization may lead to progressive corneal scarring. Male patients have relentless progression of corneal vascularization and loss of vision. [orpha.net]

• Alopecia

  Table 2 Major conditions in which ichtyosis and alopecia are both present (14). [ojrd.biomedcentral.com]

  Non-cicatricial complete body alopecia is also a classical feature. Variable degrees of a collodion membrane may be present in newborns. [orpha.net]

  You can help by adding to it. ( July 2017 ) See also [ edit ] Cicatricial alopecia List of cutaneous conditions References [ edit ] ^ "OMIM Entry - # 308205 - IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME". omim.org. [en.wikipedia.org]

  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]

  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]

• Follicular Hyperkeratosis

  ^ a b c OMIM (Online Mendelian Inheritance in Man), Johns Hopkins University, Ichthyosis follicularis, atrichia and photophobia ^ Boente M del, Bibas-Bonet H, Coronel AM, Asial RA; Atrichia, ichthyosis, follicular hyperkeratosis, chronic candidiasis [en.wikipedia.org]

  In addition, there is a congenital hearing loss, palmoplantar hyperkeratosis with leather grain-like keratoderma is present but no follicular hyperkeratosis, and the mode of inheritance is autosomal dominant [ 23 ]. [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]

  Management and treatment Follicular hyperkeratosis can be treated using topical keratolytics, emollients and urea preparations. A moderate response to acitretin therapy has been found in some patients. [orpha.net]

• Dry, Scaly Skin

  scaly skin ( ichthyosis ), absence of hair (atrichia) and excessive sensitivity to light ( photophobia ). [en.wikipedia.org]

  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]

• Cutaneous Manifestation

  Cutaneous manifestations Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. [ojrd.biomedcentral.com]

• 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]

• Frontal Bossing

  In a few cases, mild to severe intellectual disability, short stature, microcephaly, seizures, dysmorphic features (frontal bossing, choanal atresia, large ears), cleft hands, intestinal anomalies (omphalocele, Hirschsprung disease or congenital aganglionic [orpha.net]

  Miscellaneous Other clinical features associated with IFAP syndrome consist of short stature, dysmorphic features such as frontal bossing, choanal atresia, and large ears. [ojrd.biomedcentral.com]

• Seizure

  Additional features include short stature, mental retardation, seizures and a tendency for respiratory infections. [3] Genetics [ edit ] Most cases are X-linked recessive but there may be as many as three types. [en.wikipedia.org]

  Other features such as short stature, intellectual disability, and seizures may develop in the first few years of life. [ojrd.biomedcentral.com]

  In a few cases, mild to severe intellectual disability, short stature, microcephaly, seizures, dysmorphic features (frontal bossing, choanal atresia, large ears), cleft hands, intestinal anomalies (omphalocele, Hirschsprung disease or congenital aganglionic [orpha.net]

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 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]

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 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 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]

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]