Ectodermal dysplasia with alopecia, onychodysplasia, hypohidrosis, keratoderma, abnormal teeth and deafness.
ABSTRACT 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.
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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 · 2.30 Impact Factor
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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.01/2014; 2014:314391. DOI:10.1155/2014/314391
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ABSTRACT: A L C L I N I C S | 2 0 1 2 V o l u m e 4 I s s u e 2 71 Introduction The ectodermal dysplasias are a heterogenous group of dis-orders with primary defect in hair, teeth, nail and sweat gland function. 1,2 It is an X-linked recessive mendelian character which is rarely seen in males. Numerous types have been de-scribed and several classifications exist for this disorder. Freire-Maia defined the nosologic group of ectodermal dysplasia as any syndrome that exhibits atleast two of the following featurs; trichodysplasia(abnormal hair), abnormal dentition, ocho-dysplasia (abnormal nails) and dyshidrosis(abnormal sweat glands). 3,4 This condition is thought to occur in approximately one of 1,00,000 live births. The number of ectodermal dyspla-sia syndromes has increased to more than 170 syndromes .2 The various syndromes associated with ectodermal dysplasia are Rapp-Hodgkin Syndrome, Strandberg-Roncheses Syn-drome, Rosselli-Gulienetti Syndrome and various others. The genes responsible for this syndrome are Xq-12q 13.1, PVRL1 and GTB6. 5,6 The X-linked hypohidrotic ectodermal dysplasia has full expression only in males though females outnumber the affected males; they show little or no signs of the condi-tions. 1,2 The extra oral signs may include decreased or absent sweat glands, sparse and fine hair, abnormally developed nails, prominent forehead ,depressed mid face, protruberant lips, marbled pattern of skin pigmentation, atrophic rhinitis, epistaxis, saddle nose deformity, hearing loss and decreased production of body fluids. 7 The commonly occurring oral man-ifestations are anodontia or oligodontia with malformations of teeth present in both deciduous and permanent dentition. The roots of the teeth are usually short and conical. In case of complete anadontia the alveolar process will fail to develop and the vertical dimension will reduce leading to protruberant lips. 3,8,9 This paper reports two cases of ectodermal dysplasia in siblings without any family history. Case Report 1 A 19 year old male came to department of oral medicine and radiology with the chief complaint of missing teeth. On extraoral examination it was observed that he had receding hair line, scanty eyebrows, dry and parched skin which gave a scaly appearance (Figure 1, Figure 2). He had depressed nasal bridge, prominent supra-orbital ridges and frontal bossing. His lips were protruberant. He gave history of having difficul-ty in tolerating high temperature especially during summers. On intraoral examination he had many missing teeth. The only teeth present were 17,16,13,23,27 (Figure 3). The canines were cone-shaped and molars had altered morphology. The mandibular ridge was completely edentulous and appeared flat (Figure 4). The overall vertical dimension of the face was reduced. Panoramic radiograph was taken to look for any impacted teeth. On radiographic examination no impacted teeth were found. The roots of the teeth present were found to be short and conical (Figure 5).