title: A Case of IFAP Syndrome with Severe Atopic Dermatitis.
abstract: Introduction. The IFAP syndrome is a rare X-linked genetic disorder characterized by the triad of follicular ichthyosis, atrichia, and photophobia. Case Report. A three-month-old Caucasian, male patient was observed with noncicatricial universal alopecia and persistent eczema from birth. He had dystrophic nails, spiky follicular hyperkeratosis, and photophobia which became apparent at the first year of life. Short stature and psychomotor developmental delay were also noticed. Histopathological examination of skin biopsy on left thigh showed epidermis with irregular acanthosis, lamellar orthokeratotic hyperkeratosis, and hair follicles fulfilled by parakeratotic hyperkeratosis. The chromosomal study showed a karyotype 46, XY. Total IgE was 374 IU/mL. One missense mutation c.1360G>C (p.Ala454Pro) in hemizygosity was detected on the MBTPS2 gene thus confirming the diagnosis of IFAP syndrome. Conclusions. We describe a boy with a typical clinical presentation of IFAP syndrome and severe atopic manifestations. A novel missense mutation c.1360G>C (p.Ala454Pro) in MBTPS2 gene was observed. The phenotypic expression of disease is quantitatively related to a reduced function of a key cellular regulatory system affecting cholesterol and endoplasmic reticulum homeostasis. It can cause epithelial disturbance with failure in differentiation of epidermal structures and abnormal skin permeability barrier. However, no correlation phenotype/genotype could be established.
authors: Dermatology Department, Hospital de Braga, Sete Fontes, São Victor, 4710-243 Braga, Portugal.
authors: Catarina
authors: C
authors: Araújo
authors: Medical Genetics Unit, Hospital de Braga, Sete Fontes, São Victor, 4710-243 Braga, Portugal.
authors: Miguel
authors: M
authors: Gonçalves-Rocha
authors: Dermatology Department, Hospital de Braga, Sete Fontes, São Victor, 4710-243 Braga, Portugal.
authors: Cristina
authors: C
authors: Resende
authors: Dermatology Department, Hospital de Braga, Sete Fontes, São Victor, 4710-243 Braga, Portugal.
authors: Ana Paula
authors: AP
authors: Vieira
authors: Dermatology Department, Hospital de Braga, Sete Fontes, São Victor, 4710-243 Braga, Portugal.
authors: Celeste
authors: C
authors: Brito