Familial Cosegregation of Major Affective Disorder and Darier's Disease (Keratosis Follicularis)

1994 ◽  
Vol 164 (3) ◽  
pp. 355-358 ◽  
Author(s):  
Nick Craddock ◽  
Mike Owen ◽  
Susan Burge ◽  
Bobby Kurian ◽  
Phil Thomas ◽  
...  
Keyword(s):  
Affective Disorder ◽  
Autosomal Dominant ◽  
Disease Gene ◽  
Chromosomal Location ◽  
Linkage Studies ◽  
Candidate Locus ◽  
Keratosis Follicularis ◽  
Darier’S Disease ◽  
Darier's Disease ◽  
Interesting Candidate

Darier's disease is a rare autosomal dominantly inherited keratosis. This is an account of one family in which there is co-occurrence of major affective disorder and Darier's disease in five members and absence of both disorders in five members. The pedigree is consistent with genetic linkage between the Darier gene and a major autosomal dominant susceptibility locus for major affective disorder. When the Darier's disease gene has been mapped, its chromosomal location will be an interesting candidate locus for linkage studies of major affective disorder.

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 Familial case of Darier’s disease: A rare genodermatosis

2020 ◽  
Vol 8 (1) ◽  
pp. 55-57
Author(s):  
Mohammad Kamrul Ahsan ◽  
M Moniruzzaman Khan ◽  
Mir Nazrul Islam
Keyword(s):  
Autosomal Dominant ◽  
Histopathological Examination ◽  
Whole Body ◽  
Familial Case ◽  
Keratosis Follicularis ◽  
Darier’S Disease ◽  
Darier's Disease ◽  
Initial Stage ◽  
Good Improvement

Darier’s disease, also known as keratosis follicularis is a rare autosomal dominant inherited genodermatosis characterized by abnormal keratinization . A 39-year old non-diabetic, normotensive man presented to dermatology OPD with discretely distributed dark brown greasy, warty, malodorous, hyperkeratotic papules over his whole body for last 15 years. He has two young daughters and both has started initial stage of similar lesions for last 6 months. Characteristic v-shaped nicking at the tip of the nails with longitudinal red & white ridges were seen. Nails at the distal ends were broken. Biopsy of skin for histopathological examination showed more specific and confirmatory ‘corps ronds and grains’. This article reports a case of familial darier’s disease. Good improvement was noticed after acitretin therapy. Bangladesh Crit Care J March 2020; 8(1): 55-57

scholarly journals Significant Exacerbation of Darier's Disease and Pregnancy

2018 ◽  
Vol 3 (1) ◽  
pp. 01-04
Author(s):  
Joachim Dissemond ◽  
Philipp Al Ghazal ◽  
Katharina Herberger ◽  
Jörg Schaller ◽  
Anke Strölin
Keyword(s):  
Vaginal Delivery ◽  
Autosomal Dominant ◽  
Antibiotic Resistant ◽  
Keratosis Follicularis ◽  
Darier’S Disease ◽  
Darier's Disease

Darier's disease, also known as keratosis follicularis or Darier-White disease, is an autosomal dominant inherited condition. The disease usually has its onset in the teenage years, meaning it co-exists with the years of fertility in women. The potential dermatological and obstetric implications of Darrier's Disease, especially when it involves the groin and vulva, have not been well reported. We report a case of Darier's Disease associated with multiple antibiotic resistant folliculitis involving skin of the breasts, groin, vulva and perineum that precluded safe vaginal delivery.

Linkage studies of bipolar disorder in the region of the Darier's disease gene on chromosome 12q23-24.1

1995 ◽  
Vol 60 (2) ◽  
pp. 94-102 ◽  
Author(s):  
Elisabeth Dawson ◽  
Elizabeth Parfitt ◽  
Queta Roberts ◽  
Jo Daniels ◽  
Lionel Lim ◽  
...  
Keyword(s):  
Bipolar Disorder ◽  
Disease Gene ◽  
Linkage Studies ◽  
Darier’S Disease ◽  
Darier's Disease

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.

scholarly journals Evidence for familial cosegregation of major affective disorder and genetic markers flanking the gene for Darier's disease

2002 ◽  
Vol 7 (4) ◽  
pp. 424-427 ◽  
Author(s):  
I Jones ◽  
N Jacobsen ◽  
E K Green ◽  
G P Elvidge ◽  
M J Owen ◽  
...  
Keyword(s):  
Affective Disorder ◽  
Genetic Markers ◽  
Darier’S Disease ◽  
Darier's Disease
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