BACKGROUND Pachyonychia congenita (PC) is a rare inherited disorder of keratinization characterised by hypertrophic nail dystrophy, painful palmoplantar blisters, cysts, follicular hyperkeratosis and oral leukokeratosis. It is associated with mutations in five differentiation-specific keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17. OBJECTIVES Living with Pachyonychia Congenita can be iso...

INTRODUCTION Tungiasis is an infestation caused by the penetration in the skin of the gravid female of the flea Tunga penetrans (T. penetrans). The current epidemiological situation of tungiasis in Eastern Africa is poorly known. We present the results of a cross-sectional study on tungiasis which was carried out in Qameyu (Northern Tanzania). METHODOLOGY Sixty-two schoolchildren with suspect...

Grainyhead-like 2, encoded by GRHL2, is a member of a highly conserved family of transcription factors that play essential roles during epithelial development. Haploinsufficiency for GRHL2 has been implicated in autosomal-dominant deafness, but mutations have not yet been associated with any skin pathology. We investigated two unrelated Kuwaiti families in which a total of six individuals have ...

Pachyonychia congenita (PC) is a cutaneous disorder primarily characterized by nail dystrophy and painful palmoplantar keratoderma. PC is caused by mutations in KRT6A, KRT6B, KRT6C, KRT16, and KRT17, a set of keratin genes expressed in the nail bed, palmoplantar epidermis, oral mucosal epithelium, hair follicle and sweat gland. RNA-seq analysis revealed that all PC-associated keratins (except f...

Ankyloblepharon-ectodermal defect-cleft lip/cleft palate (AEC) syndrome is one of the variants of ectodermal dysplasia. It is an autosomal dominant disorder comprising of ankyloblepharon, ectodermal dysplasia, and cleft palate or cleft lip. In 1976, it wasfirst described by Hay and Wells, therefore also known as Hay-Wells syndrome. The characteristic feature of this syndrome is "ankyloblepharon...

Sir. Nail lichen planus (NLP) is characterized by thinning, longitudinal ridging and distal splitting of the nail plate (1.2). Although mild NLP is usually asymptomatic, deformation of the fingernails is cosmetically distressing. Failure to treat NLP results in nail loss or pennanent nail dystrophy in some cases. Therefore the condition should be treated etïectively in its early stage. NLP is u...

Onychomycosis is a fungal infection of the nail unit that may lead to dystrophy and disfigurement over time. It accounts for up to 50% of all nail conditions, with toenails affected more commonly than fingernails. Onychomycosis may affect quality of life and increase the prevalence and severity of foot ulcers in patients with diabetes. Available oral agents approved by the US Food and Drug Admi...

Pachyonychia congenita (PC) is a group of hereditary syndromes which have in common a hypertrophic dystrophy of the distal nail, and are associated with a variety of additional features, notably various dyskeratoses of skin and mucous membranes. The pathology is unknown but the array of clinical features suggests the possibility of a keratin abnormality. In the present report we describe linkag...

how to cite this article: barzegar m, habibi p, bonyady m, topchizadeh v, shiva sh. exon deletion pattern in duchene muscular dystrophy in north west of iran. iran j child neurol. 2015 winter; 9(1): 42-48. abstract objective duchene and becker muscular dystrophy (dmd/ bmd) are x-linked disorders that both are the result of heterogeneous mutations in the dystrophin gene. the frequency and distri...

an 8-year old boy with polyarthritis and nail involvement is presented in this report. nail involvement in reiter's syndrome is a rare condition that may include painless erythematous nduration of the base of the nail fold; subungual parakeratotic scaling and thickening opacification, ridging of the nail plate.