scholarly journals Darier’s Disease: Report of a Case with Facial Involvement

2019 ◽  
Vol 11 (3) ◽  
pp. 327-333
Author(s):  
Chaninan Kositkuljorn ◽  
Poonkiat Suchonwanit
Keyword(s):  
Female Patient ◽  
Oral Mucosa ◽  
Autosomal Dominant ◽  
Chronic Form ◽  
Darier’S Disease ◽  
Darier's Disease ◽  
Atp2a2 Gene ◽  
The Common ◽  
Head Neck

Darier’s disease is a relatively rare autosomal dominant genodermatosis with a defect in the desmosomal attachment due to a mutation in the ATP2A2 gene. The condition is characterized by multiple hyperkeratotic papules predominantly in seborrheic areas on the head, neck, and trunk, with less frequent involvement of the oral mucosa. Histopathologically, the lesions reveal suprabasal clefts in the epithelium with acantholytic and dyskeratotic cells. Facial involvement in Darier’s disease is one of the common presenting features. However, it has been once reported in a severe, chronic form as leonine facies in a long-standing case. To raise awareness of facial involvement in Darier’s disease, we herein report a 65-year-old female patient with prominent facial lesions.

scholarly journals A Rare Clinical Presentation of Intraoral Darier's Disease

2011 ◽  
Vol 2011 ◽  
pp. 1-3
Author(s):  
K. G. D. Manoja ◽  
B. S. M. S. Siriwardena ◽  
P. R. Jayasooriya ◽  
D. J. L. Siriwardane ◽  
W. M. Tilakaratne
Keyword(s):  
Autosomal Dominant ◽  
Clinical Presentation ◽  
Skin Lesions ◽  
Keratosis Follicularis ◽  
Dental Examination ◽  
Darier’S Disease ◽  
Dyskeratosis Follicularis ◽  
Darier's Disease ◽  
Adult Male Patient ◽  
Head Neck

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, thorax, and less frequently the oral mucosa. When oral manifestations are present, the palatal and alveolar mucosae are primarily affected. They usually asymptomatic and are discovered in routine dental examination. Histologically, the lesions present as suprabasal clefts in the epithelium with acantholytic and dyskeratotic cells represented by “corps ronds and grains.” This paper reports a case of an adult male patient who presented with painful whitish lesions on buccal mucosa with crusty lips as the only clinical sign of Darier's disease. As this patient did not have skin lesions or family history, an intraoral biopsy confirmed the diagnosis of Darier's disease by a multidisciplinary team.

scholarly journals A Rare Clinical Presentation of Darier’s Disease

2013 ◽  
Vol 2013 ◽  
pp. 1-5 ◽  
Author(s):  
Mybera Ferizi ◽  
Antigona Begolli-Gerqari ◽  
Bostjan Luzar ◽  
Fisnik Kurshumliu ◽  
Mergita Ferizi
Keyword(s):  
Autosomal Dominant ◽  
Clinical Presentation ◽  
Keratosis Follicularis ◽  
Dental Examination ◽  
Darier’S Disease ◽  
Dyskeratosis Follicularis ◽  
Darier's Disease ◽  
History Of ◽  
Hands And Feet ◽  
Head Neck

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.

Five mutations of ATP2A2 gene in Chinese patients with Darier’s disease and a literature review of 86 cases reported in China

2006 ◽  
Vol 298 (2) ◽  
pp. 58-63 ◽  
Author(s):  
Yun-Qing Ren ◽  
Min Gao ◽  
Yan-Hua Liang ◽  
Yan-Xia Hou ◽  
Pei-Guang Wang ◽  
...  
Keyword(s):  
Literature Review ◽  
Chinese Patients ◽  
Darier’S Disease ◽  
Darier's Disease ◽  
Atp2a2 Gene

scholarly journals Renal cyst occurring in a case of Darier’s disease

2019 ◽  
Vol 5 (2) ◽  
pp. 427
Author(s):  
Vipul Paul Thomas ◽  
Sangiah Sivaramakrishnan ◽  
Jayakar Thomas
Keyword(s):  
Autosomal Dominant ◽  
Renal Cyst ◽  
Autosomal Dominant Pattern ◽  
Darier’S Disease ◽  
Darier's Disease ◽  
Dominant Pattern

<p>Darier’s disease is a rare genodermatosis inherited in an autosomal dominant pattern. The disease is characterised by chronic persistent hyperkeratotic papular eruptions over the seborrheic regions. </p>

Novel mutation of the ATP2A2 gene in a case of Darier's disease featuring erosive lesions

2015 ◽  
Vol 25 (4) ◽  
pp. 346-348
Author(s):  
Arisa Akagi ◽  
Akihiko Kitoh ◽  
Yutaka Shimomura ◽  
Yoshiki Miyachi ◽  
Kenji Kabashima
Keyword(s):  
Novel Mutation ◽  
Darier’S Disease ◽  
Darier's Disease ◽  
Atp2a2 Gene

scholarly journals Efficacy of the Radiotherapy on Darier’s Disease: An Indirect Evidence

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Ala Podgornii ◽  
Patrizia Ciammella ◽  
Dafne Ramundo ◽  
Cinzia Iotti
Keyword(s):  
Breast Cancer ◽  
Radiation Therapy ◽  
Local Control ◽  
Autosomal Dominant ◽  
Indirect Evidence ◽  
Skin Lesions ◽  
Linear Pattern ◽  
The Third ◽  
Darier’S Disease ◽  
Darier's Disease

Darier’s disease (DD) is an autosomal dominant dermatosis characterized by hyperkeratotic papules that are mainly located in the seborrheic areas and pushups, handheld wells, and nails. The disease often appears at a young age, typically by the third decade, with no sex predilection. There is currently no standard therapy and there are usually topical palliative therapies. We present the case of an affected 42-year-old woman treated with radiation therapy for early breast cancer. Before the radiotherapy, the patient showed hyperkeratotic, brownish papules extending in a linear pattern for the neck to the abdomen, especially on both breasts and inframammary area. During the radiation, she developed grade 1 to 2 dermatitis in the irradiated area. At a followup of 6 months, the patient has no skin lesions in the irradiated zone. This report suggests that the radiotherapy is not contraindicated and may indeed be effective in local control of skin lesions in DD.

Grover's disease, despite histological similarity to Darier's disease, does not share an abnormality in the ATP2A2 gene

2000 ◽  
Vol 143 (3) ◽  
pp. 658-658 ◽  
Author(s):  
J. Powell ◽  
A. Sakuntabhai ◽  
M. James ◽  
S. Burge ◽  
A. Hovnanian
Keyword(s):  
Darier’S Disease ◽  
Darier's Disease ◽  
Atp2a2 Gene ◽  
Grover’S Disease
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