Displasia ectodérmica, ectrodactilia e fissura lábio-palatal: manifestações oculares da síndrome em relato de caso

Almeida, Sandra Flávia Fiorentini de; Solari, Helena Parente

doi:10.1590/s0004-27492007000100023

Cited by 3 publications

(1 citation statement)

References 11 publications

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“…These manifestations include: ectodermal dysplasia such as anatomical or functional abnormalities of the sweat glands 4 , fine, sparse, light-colored hair, nail dystrophy; hypoor anodontia; complete or partial cleft lip-palate; abnormalities in tear ducts and eyes; facial hypoplasia; congenital absence of one or more digits (ectrodactyly) with or without syndactyly and clinodactyly; otological abnormalities; reduced stature; genitourinary malformations; impairment of the central nervous system including hearing loss and/or mental retardation; diffuse skin hypopigmentation and cell nevi. 5 In view of the clinical exuberance of this syndrome, there is usually no need for genetic confirmation. Clinical follow-up should be multidisciplinary and the team should include specialists in dermatology, plastic surgery, ophthalmology, nephrology, odontology, clinical genetics, psychology and other specialities, as required.…”

Section: What Syndrome Is This?mentioning

confidence: 99%

Você conhece esta síndrome?

Trope

Salomão

Costa

et al. 2010

An. Bras. Dermatol.

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A síndrome de ectrodactilia, displasia ectodérmica e fenda lábio-palatina (EEC) corresponde a uma rara anomalia genética congênita, de herança autossômica dominante, penetrância e expressividade variáveis, associada à mutação no cromossomo 7 ou translocação entre cromossomos 7 e 9, determinada essencialmente pelas características que a denominam. Relata-se caso de paciente de 35 anos, acometido por estigmas sindrômicos, desde o nascimento, com história familiar e sem fenda lábio-palatina.

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Section: What Syndrome Is This?mentioning

confidence: 99%

Você conhece esta síndrome?

Trope

Salomão

Costa

et al. 2010

An. Bras. Dermatol.

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Reabilitação Protética em Paciente com Displasia Ectodérmica Hipohidrótica: Caso Clínico

León

Martins

Meyer³

et al. 2008

Revista Portuguesa de Estomatologia, Medicina Dentária e Cirurg

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Ocular Manifestations in Patients Affected by p63-Associated Disorders: Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) and Ankyloblepharon-Ectodermal Defects-Cleft Lip Palate (AEC) Syndromes

Di Iorio,

Bonelli,

Bievel-Radulescu

et al. 2023

JCM

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Background/Aims: The Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) and Ankyloblepharon–ectodermal defect–cleft lip/palate (AEC) syndromes are rare autosomal dominant diseases caused by heterozygous mutations in the p63 gene. Patients are characterized by abnormalities of the skin, teeth, and hair and have limb defects, orofacial clefting and ectodermal dysplasia. In addition, they often show ocular surface alterations, leading to progressive corneal clouding and eventually blindness. Here, we present 8 cases describing patients affected by EEC (n = 6, with 5 sporadic and 1 familial cases) and AEC (n = 2, both sporadic cases) syndromes. We attempt to provide a description of the ocular disease progression over the years. Methods: Clinical examinations and monitoring of ocular parameters for the assessment of limbal stem cell deficiency were constantly performed on patients between 2009 and 2023. Quantitative data and comparison with existing cases described in the literature are reported. Results: The therapies supplied to patients were essential for the management of the symptoms, but unfortunately did not halt the progression of the pathology. Conclusions: A constant monitoring of the patients would help avoid the sudden worsening of symptoms. If the progression of the disease slows down, it would allow for the development of newer therapeutic strategies aimed at correcting the genetic defect.

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Displasia ectodérmica, ectrodactilia e fissura lábio-palatal: manifestações oculares da síndrome em relato de caso

Abstract: Nota Editorial: Depois de concluída a análise do artigo sob sigilo editorial e com a anuência do Dr. Paulo Ricardo de Oliveira sobre a divulgação de seu nome como revisor, agradecemos sua participação neste processo.

Cited by 3 publications

References 11 publications

Você conhece esta síndrome?

Você conhece esta síndrome?

Reabilitação Protética em Paciente com Displasia Ectodérmica Hipohidrótica: Caso Clínico

Ocular Manifestations in Patients Affected by p63-Associated Disorders: Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) and Ankyloblepharon-Ectodermal Defects-Cleft Lip Palate (AEC) Syndromes

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