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]

Brain atrophy MedGen UID: 1643639 •Concept ID: C4551584 • Disease or Syndrome Partial or complete wasting (loss) of brain tissue that was once present. [ncbi.nlm.nih.gov]

• 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]

  Inguinal hernia MedGen UID: 6817 •Concept ID: C0019294 • Finding Protrusion of the contents of the abdominal cavity through the inguinal canal. [ncbi.nlm.nih.gov]

• Inflammation

  Atopic keratoconjunctival inflammation, chronic tearing, cataract, horizontal nystagmus, astigmatism and myopia have been reported. [orpha.net]

  Atopic keratoconjunctival inflammation, chronic tearing, cataract, horizontal nystagmus, astigmatism and myopia have been reported as well [ 24 ]. [ojrd.biomedcentral.com]

  Keratitis MedGen UID: 44013 •Concept ID: C0022568 • Disease or Syndrome Inflammation of the cornea. Recurrent skin infections MedGen UID: 377848 •Concept ID: C1853193 • Disease or Syndrome Infections of the skin that happen multiple times. [ncbi.nlm.nih.gov]

• Recurrent Infection

  Recurrent infections are common. External genitalia are generally normal with a few cases of cryptorchidism and one with hypospadias. [orpha.net]

  Recurrent infections are often noted in IFAP syndrome. External genitalia are almost always normal; few cases presented with cryptorchidism [ 3, 14, 16, 17 ], and one with a hypospadias [ 17 ]. Dental development is normal. [ojrd.biomedcentral.com]

• Cheilitis

  Psoriasiform plaques, angular cheilitis, periungueal inflammation, dystrophic nails, hypohidrosis and atopic eczema can be present. The palms and soles are generally unaffected. [orpha.net]

  Note: A) the atrichia, the photophobia, the cheilitis around the mouth, B) the ichthyotic scaling and erythematous and yellowish thick scaly hyperkeratotic plaques over the scalp, and C) the psoriasiform plaques over the buttocks. [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]

  Alopecia MedGen UID: 7982 •Concept ID: C0002170 • Finding A noncongenital process of hair loss, which may progress to partial or complete baldness. [ncbi.nlm.nih.gov]

• Hyperkeratosis

  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]

  Hyperkeratosis MedGen UID: 209030 •Concept ID: C0870082 • Disease or Syndrome Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are [ncbi.nlm.nih.gov]

  ^ 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]

  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]

  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]

• 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]

  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]

  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]

• Ulcer

  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]

  Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations. Opacification of the corneal stroma MedGen UID: 602191 •Concept ID: C0423250 • Finding Reduced transparency of the stroma of cornea. [ncbi.nlm.nih.gov]

  Superficial corneal ulceration and vascularization may lead to progressive corneal scarring and photophobia [ 24 ]. Males with IFAP have an inexorable progression of corneal vascularization and loss of vision [ 14 ]. [ojrd.biomedcentral.com]

• Eczema

  Eczema MedGen UID: 3968 •Concept ID: C0013595 • Disease or Syndrome Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. [ncbi.nlm.nih.gov]

  Psoriasiform plaques, angular cheilitis, periungueal inflammation, dystrophic nails, hypohidrosis and atopic eczema can be present. The palms and soles are generally unaffected. [orpha.net]

  Psoriasiform plaques (Figure 1B-C ), angular cheilitis, periungueal inflammation, dystrophic nails, hypohidrosis, and atopic eczema can be present. The palms and soles are generally unaffected; one patient had a plantar keratoderma [ 3 ]. [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]

  Seizure MedGen UID: 20693 •Concept ID: C0036572 • Sign or Symptom A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal [ncbi.nlm.nih.gov]

• Nystagmus

  Atopic keratoconjunctival inflammation, chronic tearing, cataract, horizontal nystagmus, astigmatism and myopia have been reported. [orpha.net]

  Atopic keratoconjunctival inflammation, chronic tearing, cataract, horizontal nystagmus, astigmatism and myopia have been reported as well [ 24 ]. [ojrd.biomedcentral.com]

• Global Developmental Delay

  Global developmental delay MedGen UID: 107838 •Concept ID: C0557874 • Finding A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social [ncbi.nlm.nih.gov]

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]

A high priority has been placed on the ease of extracting key information quickly: diagnostic algorithms and management ladders help the reader choose appropriate treatment strategies. [books.google.com]

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]

[from OMIM] From HPO Cryptorchidism MedGen UID: 8192 •Concept ID: C0010417 • Congenital Abnormality Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement [ncbi.nlm.nih.gov]

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]

On the basis of clinical manifestations, epidemiologic characteristics, and the presence of additional malformations, Yang et al. (1992) concluded that omphalocele and gastroschisis are casually and pathogenetically distinct abdominal wall defects. [ncbi.nlm.nih.gov]

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]