The ectodermal dysplasias are a heterogeneous group of disorders with primary defect in hair, teeth, nail and sweat gland function. Numerous types have been described and several classifications exist. Here, we present a patient with ectodermal dysplasia with alopecia, dysplastic nails, hypohidrosis, sensorineural deafness, palmoplantar keratoderma, abnormal teeth and dry skin. To our knowledge, combination of all these features in ectodermal dysplasia has not been reported in the past. The etiology is unknown, but consanguinity of parents points to an autosomal recessive inheritance.
"Ectodermal dysplasia comprises a large and heterogeneous group of inherited disorders defined by primary defects in the development of two or more tissues derived from the embryonic ectoderm. Ectodermal dysplasia is classified according to the combination and severity of the presented features . "
[Show abstract][Hide abstract] ABSTRACT: Ectodermal dysplasia and sickle cell anaemia are inherited disorders that affect, respectively, the tissues derived from the embryonic ectoderm and the production of erythrocytes by the bone marrow. The simultaneous occurrence of both disorders is extremely rare. This is a case of both ectodermal dysplasia and sickle cell anaemia reported in a 6-year-old. The patient had been diagnosed with sickle cell anaemia for only six months when he sought treatment presenting with the following: hypotrichosis, dry skin, periocular hyperpigmentation, protruding lips, hypodontia, and morphologically altered teeth. The clinical features combined with his medical history led to the diagnosis of ectodermal dysplasia. Dentists should be prepared to recognise patterns that escape normality to aid in the diagnosis of systemic changes, even in patients with other previous diagnoses.
"Steijlen et al.  described a family with PPK, hypotrichosis, mental retardation, and parodontopathy, segregating as an autosomal recessive trait. Finally, two unrelated patients were described with a provisionally distinct forms of ectodermal dyplasia comprising PPK, hypotrichosis, and other features [Akhyani and Kiavash, 2007; Nakamura and Ishikawa, 2007]. A review identified 4 additional familial [Stevanovi c, 1959; Bhatia et al., 1989; Wallis et al., 1989; Bas¸aran et al., 1995] and 2 sporadic [Stratton et al., 1993; Rai and Shenoi, 2005] cases with PPK-CA, for a total of 18 individuals including the present patient(Table II). "
[Show abstract][Hide abstract] ABSTRACT: Palmoplantar keratoderma (PPK) may concur with congenital alopecia (CA) in various genodermatoses. We report on a 10-year-old girl with generalized atrichia and a severe form of PPK causing pseudo-ainhum, sclerodactyly, and contractures, a phenotype not consistent with any well-defined condition. Non-specific additional findings comprised mild nail dystrophy and widespread keratosis pilaris including ulerythema ophryogenes. Direct sequencing of the GJB2 and LOR coding regions yielded normal results. A review identified two additional sporadic and four familial cases with PPK and CA. Comparison between familial cases suggested the existence of two genetically and phenotypically distinct types of PPK-CA: (i) an autosomal dominant form (Stevanović type), a variable and benign phenotype without significant hand complications, and (ii) a more complex autosomal recessive variant (Wallis type) with contractures, sclerodactyly, and pseudo-ainhum. Nuclear cataract may represent an additional although not constant finding in the Wallis type PPK-CA. Further reports are required to test this preliminary conclusion.
American Journal of Medical Genetics Part A 08/2010; 152A(8):2043-7. DOI:10.1002/ajmg.a.33490 · 2.16 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Ectodermal dysplasias (EDs) as defined by Freire-Maia [Freire-Maia (1971); Hum Hered 21: 309-312; Freire-Maia (1977); Acta Genet Med Gemellol 26: 121-131] are congenital disorders characterized by alterations in two or more ectodermal structures, at least one of these involving alterations in hair, teeth, nails, or sweat glands. Suggestions for a new definition and, consequently, for a new classification of EDs have being proposed lately, mainly with the purpose of connecting clinical knowledge with recent discoveries of gene mutations responsible for about 30% of EDs. The aim of this review was to update the clinical classification of EDs with recent molecular (64 genes and 3 chromosome regions) and clinical data, mainly of EDs of the A group (N = 186), in order to contribute information for the evaluation of the ED definition proposed by Freire-Maia. Our conclusion is that the combination of both procedures-clinical and molecular-only brings advantages for a deeper knowledge of EDs. First, it allows a rapid diagnosis that may become even more precise whenever DNA exams are available. Secondly, the comprehension of the biological mechanisms that cause EDs is needed for the design of efficient prevention and treatment approaches.
American Journal of Medical Genetics Part A 09/2009; 149A(9):1980-2002. DOI:10.1002/ajmg.a.32864 · 2.16 Impact Factor
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