Autosomal dominant lamellar ichthyosis

Toribio, Jaime; Redondo, Virginia Fernández; Peteiro, C.; Zulaica, Á.; Fabeiro, J. M.

doi:10.1111/j.1399-0004.1986.tb00580.x

Cited by 23 publications

(7 citation statements)

References 12 publications

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“…Ten families, 8 new and 2 previously reported (5,14,15), harboured 7 different PNPLA1 mutations. These families encompassed 8 patients with LI, 4 patients with CIE and one individual without any available phenotypic information.…”

Section: Resultsmentioning

confidence: 99%

Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect

Esperón-Moldes¹,

Val²,

Rodríguez-Pazos³

et al. 2019

Acta Derm Venerol

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Section: Resultsmentioning

confidence: 99%

Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect

Esperón-Moldes¹,

Val²,

Rodríguez-Pazos³

et al. 2019

Acta Derm Venerol

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“…~ 24 ~ I shows that maximum cases were seen in age group 0-10 years (18) followed by 11-20 years (6), 21-30 years (4), 31-40 years (5), 41-50 years (3) and >50 years (2). The difference was significant (P< 0.05).…”

Section: Methodsmentioning

confidence: 89%

Evaluation of cases of Icthyoses- A clinical study

Mishra¹

2018

Int. J. Dermatol. Venereology Leprosy Sci.

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Background: Icthyoses are heterogeneous group of disorders. The present study was conducted to evaluate cases of Icthyoses reported to the department. Materials & Methods:The present study was conducted on 38 cases of congenital Icthyoses reported to the department. A careful clinical examination was done. A punch biopsy was taken from atypical and doubtful cases. Results: Maximum cases were seen in age group 0-10 years ( 18) followed by 11-20 years (6), 21-30 years (4), 31-40 years (5), 41-50 years (3) and >50 years (2). The difference was significant (P< 0.05). Ichthyosis vulgaris was seen in 14, X-linked recessive ichthyosis in 10, Lamellar ichthyosis in 6, Bullous ichthyosiform erythroderma in 4, Epidermolytic ichthyosis in 3 and Ichthyosis hystrix in 1. Hyperlinear palms were present in 3, hyperlinear soles in 34, keratosis pilaris in 22 and atopy in 17. The difference was significant (P< 0.05). Conclusion:Most common lesion reported was Ichthyosis vulgaris and age group 0-10 years had maximum cases.

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“…This inheritance pattern has never been found in India although it has been reported from Germany, France, and Sweden. [ 10 ] Interestingly, 4 (40%) patients were atopic. However, we could not find atopy as a feature of LI in literature.…”

Section: Discussionmentioning

confidence: 99%

Clinico-epidemiological study of congenital ichthyosis in a tertiary care center of Eastern India

et al. 2017

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Background:Congenital ichthyoses comprises various specific genetic diseases and can range from mild to very severe presentation. Furthermore, these may be associated with various syndromes. There is scanty data regarding the demographic profile and clinical features of patients with congenital ichthyosis in India.Aims and Objectives:The aim is to evaluate the epidemiology and clinical characteristics of various types of congenital ichthyoses.Materials and Methods:The study was conducted for 1 year from April 2013 to March 2014. Patients were evaluated for epidemiological profile and clinical features.Results:During the study of 1 year, 106 patients of congenital ichthyoses were identified. The most common of the various ichthyoses was ichthyosis vulgaris, followed by lamellar ichthyosis, X-linked recessive ichthyosis. One case of Netherton syndrome and one of ichthyosis hystrix were also identified.Conclusion:Various types of congenital ichthyoses present with different clinical features which range from mild to severe. These present with significant psychological stress to both patients and their families. Furthermore, all these diseases have significant implications of transmission to their offspring.

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Autosomal dominant lamellar ichthyosis

Cited by 23 publications

References 12 publications

Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect

Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect

Evaluation of cases of Icthyoses- A clinical study

Clinico-epidemiological study of congenital ichthyosis in a tertiary care center of Eastern India

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