Current status of genodermatoses: An Indian perspective

Pandhi, Deepika

doi:10.4103/0378-6323.148556

Cited by 4 publications

(2 citation statements)

References 9 publications

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“…However, identifying hereditary skin disorders can be challenging because of both the rarity of these conditions and the lack of awareness, particularly when the skin disorder is not detectable at birth [5].…”

Section: Introductionmentioning

confidence: 99%

Oral Mucosa and Nails in Genodermatoses: A Diagnostic Challenge

Cantile

Coppola

Caponio

et al. 2021

JCM

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Genodermatoses represent a group of uncommon, hereditary, single-gene skin disorders, characterized by multisystem involvement, heterogeneous clinical manifestations and different degrees of morbidity and mortality. Some genodermatoses may have oral mucosa and nail involvement, since the oral cavity and cutaneous organ system, including nails, share a close embryologic origin. Nail disorders can manifest with nail hypoplasia or nail hypertrophy. Clinical pictures of affected oral mucosa can be extremely heterogeneous, ranging from asymptomatic papules to painful blisters, leukokeratosis, oral papillomas and fibromas to oral potentially malignant disorders and cancerous lesions. Oral mucosa and nails pathological features may occur synchronously or not and are usually associated with other systemic and skin manifestations. In some cases, oral mucosa and nails diseases may be distinct and constitute the principal sign of the genetic disorder, in other cases they represent only a part of the puzzle for the confirmation of the diagnosis. Continued awareness of the correlation between oral mucosa and nails findings can help physicians to diagnose genodermatosis in a timely manner, allowing more effective clinical management and prevention and/or early detection of complications. This article provides an overview of all specific genodermatoses affecting both oral mucosa and nails. Moreover, the correlation between teeth and nails is summarized in tabular form.

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Section: Introductionmentioning

confidence: 99%

Oral Mucosa and Nails in Genodermatoses: A Diagnostic Challenge

Cantile

Coppola

Caponio

et al. 2021

JCM

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“…Genodermatoses are a group of inherited disorders with a conglomeration of cutaneous and systemic signs and symptoms. 1 They do not always manifest at birth, have a variable degree of inheritance and cause considerable morbidity and psychosocial distress due to lack of concrete treatment. 2 Besides seeking the symptomatic treatment for the disease, the family of the diseased must cope with the risk of disease recurrence in future gestation.…”

Section: Introductionmentioning

confidence: 99%

Clinico-epidemiological study of genodermatoses in pediatric age group

et al. 2019

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Background: Genetic diseases causing abnormalities in structure and/or function of skin are termed as genodermatoses. As there is paucity of epidemiological data of genodermatoses from our country, this study was conducted to determine the latest clinical and epidemiological trends of pediatric genodermatoses.Methods: A hospital-based observational study consisting of 35 clinically diagnosed pediatric genodermatoses cases, who reported to the Dermatology OPD, Dr. D.Y. Patil Medical College, Pune, was conducted for a period of two years. Socio-demographic and clinical information was collected and clinical examination was performed on all patients to record any cutaneous/extra-cutaneous abnormality. The participants were then subjected to necessary investigations to elucidate the additional disease components. The data was evaluated using appropriate statistical methods.Results: Out of 4032 pediatric patients, 35 were found to have genodermatoses. Majority (57.14%) cases belonged to the first decade of life. There was no sexual predilection (male:female - 0.94:1). The commonest genodermatoses detected were neurofibromatosis and tuberous sclerosis (17.14% each). Most common mode of inheritance seen was autosomal dominant (57.14%). Family history and consanguinity were recorded in 45.71% and 22.86% cases respectively. Café-au-lait macules seen in 22.86% cases and ocular anomalies recorded in 34.38% cases were the commonest cutaneous and extracutaneous manifestations, respectively.Conclusions: Genodermatoses are rare skin disorders with systemic involvement at times, resulting in poorer prognosis. This necessitates more focus on this speciality.

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Practice and Educational Gaps in Genodermatoses

Schaffer

2016

Dermatologic Clinics

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Current status of genodermatoses: An Indian perspective

Cited by 4 publications

References 9 publications

Oral Mucosa and Nails in Genodermatoses: A Diagnostic Challenge

Oral Mucosa and Nails in Genodermatoses: A Diagnostic Challenge

Clinico-epidemiological study of genodermatoses in pediatric age group

Practice and Educational Gaps in Genodermatoses

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