Darier’s disease: variable clinical presentation and a fatal outcome

2009 ◽  
Vol 34 (5) ◽  
pp. 628-629 ◽  
Author(s):  
S. M. Woo ◽  
C. H. Won ◽  
S. Cho
Keyword(s):  
Clinical Presentation ◽  
Fatal Outcome ◽  
Darier’S Disease ◽  
Darier's Disease ◽  
Variable Clinical Presentation

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.

Hemorrhagic Darier's disease

1993 ◽  
Vol 129 (4) ◽  
pp. 511-512 ◽  
Author(s):  
P. L. Foresman
Keyword(s):  
Darier’S Disease ◽  
Darier's Disease

Hailey-Hailey Disease with Hyperkeratotic Verrucus Lesions (Similar to Darier's Disease): A Case Report.

1992 ◽  
Vol 54 (6) ◽  
pp. 1074-1078
Author(s):  
Toshiki ITOH ◽  
Youichi INABA ◽  
Takehiko NAKAMURA ◽  
Tomomichi ONO
Keyword(s):  
Case Report ◽  
Darier’S Disease ◽  
Darier's Disease

A Japanese case of segmental Darier's disease caused by mosaicism for the ATP2A2 mutation

2003 ◽  
Vol 149 (1) ◽  
pp. 185-188 ◽  
Author(s):  
T. Wada ◽  
Y. Shirakata ◽  
H. Takahashi ◽  
S. Murakami ◽  
H. Iizuka ◽  
...  
Keyword(s):  
Japanese Case ◽  
Darier’S Disease ◽  
Darier's Disease

scholarly journals Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation

Brain ◽  
2017 ◽  
Vol 140 (10) ◽  
pp. e65-e65 ◽  
Author(s):  
Mert Karakaya ◽  
Neda Mazaheri ◽  
Ipek Polat ◽  
Diana Bharucha-Goebel ◽  
Sandra Donkervoort ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Charcot Marie Tooth ◽  
Variable Clinical Presentation
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