Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: Report of a new family with additional features and review

Abstract

Two brothers with ichthyosis follicularis, noncicatricial universal alopecia, photophobia, hyerkeratotic psoriasis-like lesions, nails dystrophy, inguineal herniae, cryptorchidism, short stature, seizures, and psychomotor developmental delay are described. These features correspond to the ichthyosis follicularis, alopecia, photophobia (IFAP) syndrome. The youngest brother had in addition a bilateral absence of 4th fingers and camptodactyly, features never reported in patients with IFAP syndromes.

Expanding the phenotype of IFAP/BRESECK syndrome: A new case with severe hypogammaglobulinemia

“…Recently a patient with the p.I258.M mutation was described with mild B cell lymphopenia and poor antibody response [6]. Other authors have reported atopic features like urticaria, atopic dermatitis, cow's milk protein allergy and anaphylaxis [3,4,11,16]. The presence of hypogammaglobulinemia in our patient might suggest a primary B lymphocyte disfunction in IFAP/BRESHECK syndrome playing a role in the pathogenesis of recurrent skin and respiratory tract infections.…”

“…Global developmental delay and intellectual disability have been described in most reported patients [5,8,10,11,14,15]. Other neurological features in this case were microcephaly, dilated ventricles and thin corpus callosum.…”

“…There is a report of one patient with recurrent upper respiratory infections and pneumonia with immunological screening showing IgG 2 levels slightly under average [11]. In all of this four patients molecular studies of the MBTPS2 gene were not available.…”

A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation

“…Inconsistent findings include neurological abnormalities, such as retarded psychomotor development, cerebral atrophy, temporal lobe malformation, hypoplasia of the corpus callosum and seizures; failure to thrive; nail dystrophy; atopic manifestations; inguinal hernia; aganglionic megacolon; as well as renal, vertebral and testicular anomalies. [7][8][9][10][11][12] Oeffner et al 5 reported that IFAP syndrome is caused by functional deficiency of membrane-bound transcription factor protease, site 2, an intramembrane zinc metalloprotease that is essential for cholesterol homeostasis and the ER stress response. [13][14][15] They performed a linkage analysis involving two families of European descent, in which IFAP segregated according to an X-linked pattern of transmission, and assigned the IFAP locus to the 5.4-Mb region between DXS989 and DXS8019 on Xp22.11-p22.13.…”

Expanding the phenotype of alopecia–contractures–dwarfism mental retardation syndrome (ACD syndrome): description of an additional case and review of the literature

“…Therefore, the patient described by Martino in 1992 [13] with IFAP syndrome who had vertebral anomalies (clefting of dorsal vertebral bodies and platyspondyly) may have been misdiagnosed and actually has ACD syndrome. This may also be true for the two brothers, one with ectrodactyly, reported by Mégarbané in 2004 [14]. It is noteworthy that all patients with ACD syndrome described so far had ichthyosis follicularis, except for the patient described by van Gelderen in 1979 [17] and the patient described by us, who has ichthyosis vulgaris.…”