Clinical and Mutational Heterogeneity of Darier Disease in Tunisian Families

Bchetnia, Mbarka; Charfeddine, Chérine; Kassar, Selma; Zribi, H.; Guettiti, Haifa Tounsi; Ellouze, F.; Cheour, M.; Boubaker, Samir; Osman, Amel Dhahri-Ben; Abdelhak, Sonia; Mokni, M.

doi:10.1001/archdermatol.2009.52

Cited by 27 publications

(33 citation statements)

References 6 publications

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“…All mutations found are scattered throughout the sequence of ATP2A2 , in accordance with other studies. For three novel mutations (c.1A>T, c.1761+2T>G, c.2699T>C (p.(Leu900Pro))), different variants at the same position were described previously (c.1A>G, c.1761+2T>C, c.2699T>G (p.(Leu900Arg)), respectively) [Ruiz‐Perez et al., ; Ikeda et al., ; Onozuka et al., ; Bchetnia et al., ; Shi et al., ; Green et al., ; ]. We found c.1A>G in two of our patients as well, so that mutations at position 1 have been described on six instances up to date [Ruiz‐Perez et al., ; Ikeda et al., ; Onozuka et al., ; Green et al., ].…”

Section: Variantsmentioning

confidence: 99%

Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease

et al. 2017

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The two disorders of cornification associated with mutations in genes coding for intracellular calcium pumps are Darier disease (DD) and Hailey-Hailey disease (HHD). DD is caused by mutations in the ATP2A2 gene, whereas the ATP2C1 gene is associated with HHD. Both are inherited as autosomal-dominant traits. DD is mainly defined by warty papules in seborrheic and flexural areas, whereas the major symptoms of HHD are vesicles and erosions in flexural skin. Both phenotypes are highly variable. In 12%-40% of DD patients and 12%-55% of HHD patients, no mutations in ATP2A2 or ATP2C1 are found. We provide a comprehensive review of clinical variability in DD and HHD and a review of all reported mutations in ATP2A2 and ATP2C1. Having the entire spectrum of ATP2A2 and ATP2C1 variants allows us to address the question of a genotype-phenotype correlation, which has not been settled unequivocally in DD and HHD. We created a database for all mutations in ATP2A2 and ATP2C1 using the Leiden Open Variation Database (LOVD v3.0), for variants reported in the literature and future inclusions. This data may be of use as a reference tool in further research on treatment of DD and HHD.

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Section: Variantsmentioning

confidence: 99%

Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease

et al. 2017

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“…Oral lesions are detected in approximately 15% of the patients, and they appear as white papules with a central depression [12]. Here, we report a rare clinical presentation with keratotic papules present on the hands and feet, nose, ears, genitalia, and whitish lesions on palatal mucosa.…”

Section: Discussionmentioning

confidence: 84%

A Rare Clinical Presentation of Darier’s Disease

Ferizi

Begolli-Gerqari

Luzar

et al. 2013

Case Reports in Dermatological Medicine

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Darier's disease, also known as keratosis follicularis or dyskeratosis follicularis, is a rare disorder of keratinization. It is an autosomal dominant genodermatosis with high penetrance and variable expressivity. Its manifestation appears as hyperkeratotic papules, primarily affecting seborrheic areas on the head, neck, and thorax and less frequently on the oral mucosa. When oral manifestations are present, the palatal and alveolar mucosae are primarily affected. They are usually asymptomatic and are discovered in routine dental examination. Histologically, the lesions are presented as suprabasal clefts in the epithelium with acantholytic and dyskeratotic cells represented by “corps ronds and grains”. This paper reports a case of a 53-year-old woman that was admitted to our clinic with more than 10-year history of keratotic papules, presented on the hands and feet, nose, ears, genitalia, and whitish lesions on palatal mucosae.

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“…The cosegregation of two genetic diseases in the same family, also known as comorbidity, has been previously reported in inbred populations from Middle East and North Africa [14,15,16,17,18]. In Tunisia, 75 comorbid associations have been described.…”

Section: Discussionmentioning

confidence: 86%

A Tunisian Patient with Two Rare Syndromes: Triple A Syndrome and Congenital Hypogonadotropic Hypogonadism

Abdallah

Lakhoua²,

Nagara³

et al. 2014

Horm Res Paediatr

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Background/Aims: The coexistence of triple A syndrome (AAAS) and congenital hypogonadotropic hypogonadism (CHH) has so far not been reported in the literature. This study aimed to characterize at the clinical and genetic level one patient presenting an association of AAAS and CHH in order to identify causal mutations. Methods: Clinical and endocrinal investigations were performed and followed by mutational screening of candidate genes. Results: At the age of 18, the patient presented sexual infantilism, a micropenis and gynecomastia. No mutation was revealed in GnRHR, TACR3/TAC3, PROK2/PROKR2 and PROP1 genes, except a homozygous intronic variation (c.244 + 128C>T; dbSNP: rs350129) in the KISS1R gene, which is likely nondeleterious. A homozygous splice-donor site mutation (IVS14 + 1G>A) was found in the AAAS gene. This mutation, responsible for AAAS, is a founder mutation in North Africa. Conclusion: This is the first report on a Tunisian patient with the coexistence of AAAS and CHH. The diagnosis of CHH should be taken in consideration in patients with Allgrove syndrome and who carry the IVS14 + 1G>A mutation as this might challenge appropriate genetic counseling.

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Clinical and Mutational Heterogeneity of Darier Disease in Tunisian Families

Abstract: To study the mutation spectrum and phenotype-genotype correlation of Darier disease (DD) in Tunisian patients.

Cited by 27 publications

References 6 publications

Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease

Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease

A Rare Clinical Presentation of Darier’s Disease

A Tunisian Patient with Two Rare Syndromes: Triple A Syndrome and Congenital Hypogonadotropic Hypogonadism

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