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Acitretin for Papillon-Lefevre syndrome in a five-year-old girl
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Sir,
Papillon-Lefevre Syndrome (PLS) is a rare genetic disorder with an autosomal recessive mode of inheritance and is characterized by symmetrical transgradient palmoplantar keratoderma and severe periodontal disease. Other features may include tendency to frequent pyogenic infections of the skin and internal organs, and calcification of the dura, particularly the tentorium and falx cerebri. The disease prevalence is one to four persons per million. Both sexes are equally affected. Co...
Related newspaper, magazine, and journal articles from HighBeam Research
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Acitretin for Papillon-Lefevre syndrome in a five-year-old girl
Indian Journal of Dermatology, Venereology and Leprology
; Sir, Papillon-Lefevre Syndrome (PLS) is a rare genetic disorder with an autosomal recessive mode of inheritance and is characterized by symmetrical transgradient palmoplantar keratoderma and severe periodontal disease. Other features may include tendency to frequent pyogenic infections of the skin
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Ectodermal dysplasia with alopecia, onychodysplasia, hypohidrosis, keratoderma, abnormal teeth and deafness
Indian Journal of Dermatology, Venereology and Leprology
; Introduction The ectodermal dysplasias are heterogeneous heritable developmental disorders with ectodermal manifestations and defects affecting other organs and tissues. [1] The main manifestations include defects in hair, teeth, nail and sweat gland functions. These disorders are clinically
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Naxos disease: A rare occurrence of cardiomyopathy with woolly hair and palmoplantar keratoderma
Indian Journal of Dermatology, Venereology and Leprology
; ... be detected during childhood. A two base-pair deletion in the plakoglobin (cell adhesion protein) gene ( Pk2157del2TG ), which maps to17q21, has been identified as the cause of Naxos disease and provided evidence that the pathogenesis might be related to a ...
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Variant of Vohwinkel's syndrome
Indian Journal of Dermatology, Venereology and Leprology
; Introduction Keratoderma hereditaria mutilans (KHM) was first described by Vohwinkel in the German literature in 1929.[1] This palmoplantar keratoderma is thought to be an autosomal dominant genodermatosis with defective epidermal differentiation and is quite rare.[2] A triad of clinical features
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Localized non-epidermolytic keratoderma
Indian Journal of Dermatology, Venereology and Leprology
; Sir, Palmoplantar keratoderma is a heterogenous group of disorders, which encompass conditions characterizing thickening of palms and soles. It may be hereditary, acquired, syndromes with PPK as associated feature, diffuse or localized. Focal keratoderma is characterized by lesions located over
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Inherited disorders shed light on desmosomes; several diseases can be traced to mutations in the complexes that form epithelial cell junctions.(Clinical Rounds)
Skin & Allergy News
; PARIS -- Over the last several years, reports and studies of several inherited desmosome disorders have shed light on the role of desmosome components in skin biology, Dr. John McGrath said at the annual meeting of the European Society for Dermatological Research. Desmosomes are complexes that form
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Molecular biology approaches help piece together puzzle of EHK
Dermatology Times
; New Orleans -- While many questions remain, implementation of molecular genetic approaches has led to an improved understanding of the etiology of epidermolytic hyperkeratosis (EHK), John J. DiGiovanna, M.D., said at the annual meeting of the American Academy of Dermatology. To date, mutations in
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Ichthyosis follicularis with alopecia and photophobia (IFAP) syndrome
Indian Journal of Dermatology, Venereology and Leprology
; Introduction Ichthyosis refers to a relatively uncommon group of skin disorders characterized by the presence of excessive amounts of dry surface scales. It is regarded as a disorder of keratinization or cornification and it is due to abnormal epidermal differentiation or metabolism. Ichthyosis
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Psoriasiform dermatoses
Indian Journal of Dermatology, Venereology and Leprology
; Introduction Psoriasiform dermatoses refers to a group of disorders, which clinically and/or histologically, simulates psoriasis. [12] They include several unrelated disorders of the integument, which either in the beginning or in the course of progression/resolution, exhibit lesions resembling
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Pityriasis rubra pilaris: a clinical review.(Disease Management)(Author Abstract)
Dermatology Nursing
; Pityriasis rubra pilaris (PRP) is a red scaly eruption characterized by the association of palmoplantar keratoderma, follicular plugging, and erythematous peri-follicular papules which may progress to plaques or erythroderma (White, 2003). Most cases are sporadic and acquired but a familial form
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