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Mentioned People. Adam Bonneville. 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 ]. It can be present early in life or later in childhood.

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 ].

Atopic keratoconjunctival inflammation, chronic tearing, cataract, horizontal nystagmus, astigmatism and myopia have been reported as well [ 24 ]. Slit lamp examination can show the presence of a diffuse punctate epithelial keratopathy with diffuse vascularizing keratitis and rare areas of partial corneal opacification next to areas with maintained corneal transparency [ 14 ].

The anterior chamber, lens and ocular fundus are usually normal. Affected or carrier females could also present photophobia in the first year of life, and retinal vascular tortuosity [ 24 ].

Other findings include olivo-cerebellar atrophy, malformation of the temporal lobes, mild inner cerebral atrophy, and hypoplasia of the corpus callosum [ 2 , 10 ]. Other clinical features associated with IFAP syndrome consist of short stature, dysmorphic features such as frontal bossing, choanal atresia, and large ears.

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 ].

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. MBTPS2 is a membrane-embedded zinc metalloprotease that activates signaling proteins involved in sterol control of transcription and endoplasmic reticulum ER stress response [ 25 , 26 ]. It impairs cholesterol homeostasis and the ability to cope with endoplasmic reticulum stress.

Functional studies on different mutations showed that patients with mutations that result in the lowest residual MBTPS2 activity had the most severe phenotypes [ 17 ]. ArgHis mutation in MBTPS2, was not as severely affected as the patients from a German family carrying the same mutation [ 16 , 17 ]. Furthermore, it was shown that the p. AsnSer mutation causes IFAP syndrome and a close allelic syndrome named "Keratosis follicularis spinulosa decalvans" [ 17 , 27 ].

Those observations raise the possibility that modifying factors might modulate the phenotype in this syndrome. 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. Transverse section of scalp biopsy can reveal abortive sebaceous glands in hair follicles [ 9 ].

The number of total hair follicles is not significantly decreased suggesting that the pilosebaceous hypoplasia might arise from impaired maturation during hair follicle morphogenesis [ 9 ]. On electron microscopy moderate spongiotic changes associated with partial disruption of the intercellular bridges, decreased desmosomes in number and size, and some dyshesion of the cells could be seen [ 21 ].

Examination of the cornea with EM can show reduced number of desmosomes in the corneal epithelium, dispersed bundles of tonofilaments and dilated intercellular gaps with segregated desmosome remnants [ 5 ]. IFAP syndrome cannot be detected prenatally by ultrasonography. If the mutation has been characterized in a carrier mother, prenatal diagnosis can be proposed.

No cases of mosaicism have reported so far. The mutation might also arise in the patient de novo. Recently, a mother and daughter [ 19 ], and 2 unrelated female patients [ 4 ] with an IFAP syndrome were reported.

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.

Generalized ichthyosis and alopecia have been reported in very few syndromes Table 2. The IFAP syndrome and the dermotrichic syndrome have overlapping manifestations. Both are characterized by ichthyotic lesions and atrichia from birth, and short stature, intellectual disability, and seizures.

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. In fact, overlap between both syndromes had already been noted in few patients [ 13 , 14 ] showing that both syndromes could be identical. The HMD is an autosomal dominant condition which can be differentiated from IFAP by the presence of well demarcated erythema of the oral mucosa and a psoriasiform perineal rash, chronic erythematous macules and papules on palate and gingival and recurrent respiratory infections in infancy, cataracts in childhood, and fibrocystic lung disease in adulthood [ 27 ].

Nevertheless, in patients with KID syndrome nails are often dystrophic, teeth may be small or malformed, and ocular changes are usually observed during the 2 nd or 3 rd decade. 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 ]. KFSD is X-linked recessive and causes follicular hyperkeratosis, hyperkeratosis of the calcaneal regions of the soles, scarring alopecia, absent eyebrows and eyelashes, and a corneal dystrophy with marked photophobia.

Carriers may have mild manifestations. A moderate response to acitretin therapy at a dose of 0. Otherwise, follicular hyperkeratosis can be treated using topical keratolytics, urea preparations, and emollients.

Topical retinoids are not suitable because of their irritation. Corneal vascularization is relentless in affected boys and does not respond to topical corticosteroid therapy. Intensive lubrication of the ocular surface remains the mainstay of therapy [ 24 ]. Seizures must be treated accordingly. The oldest reported patient was 33 years old [ 10 ]. Cardiopulmonary complications were the main cause of death.

Written informed consent was obtained from the patient's parents for publication of this review and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal. Br J Dermatol. Google Scholar. Pediatr Neurol. Eur J Dermatol. J Am Acad Dermatol. Article Google Scholar.

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Konig A, Happle R: Linear lesions reflecting lyonization in women heterozygous for IFAP syndrome ichthyosis follicularis with atrichia and photophobia. Pediatr Dermatol. J Hum Genet.

Am J Hum Genet.