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.

Therapeutic Options for the Treatment of Darier’s Disease: A Comprehensive Review of the Literature

2021 ◽  
pp. 120347542110584
Author(s):  
N. Hanna ◽  
M. Lam ◽  
P. Fleming ◽  
C. Lynde
Keyword(s):  
English Language ◽  
Case Reports ◽  
Case Series ◽  
Surgical Excision ◽  
Therapeutic Options ◽  
Keratosis Follicularis ◽  
Darier’S Disease ◽  
Dyskeratosis Follicularis ◽  
Darier's Disease ◽  
Oral Isotretinoin

Darier’s disease (also known as keratosis follicularis or dyskeratosis follicularis) is an autosomal dominant inherited disorder which manifests as hyperkeratotic greasy papules in the first or second decade of life. Aside from symptom management and behavioral modifications to avoid triggers, there are currently no validated treatments for Darier’s disease (DD). However, a variety of treatments have been proposed in the literature including retinoids, steroids, vitamin D analogs, photodynamic therapy, and surgical excision. The purpose of this review article is to identify therapeutic options for treating DD and to outline the evidence underlying these interventions. A search was conducted in Medline for English language articles from inception to July 4, 2020. Our search identified a total of 474 nonduplicate studies, which were screened by title and abstract. Of these, 155 full text articles were screened against inclusion/exclusion criteria, and 113 studies were included in our review. We identified Grade B evidence for the following treatments of DD: oral acitretin, oral isotretinoin, systemic Vitamin A, topical tretinoin, topical isotretinoin, topical adapalene gel, topical 5-flououracil, topical calciptriol and tacalcitol (with sunscreen), grenz ray radiation, and x-ray radiation. All other evidence for treatments of DD consisted of case reports or case series, which is considered grade C evidence. Considering the quality and quantity of evidence, clinicians may consider initiating a trial of select topical or oral retinoids first in patients with localized or generalized DD, respectively.

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.

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 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 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.

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 Darier's Disease: A Clinical Rarity

2011 ◽  
Vol 2 (2) ◽  
pp. 139-142
Author(s):  
Roopa S Rao ◽  
Vijaya V Mysorekar ◽  
TK Sumathy
Keyword(s):  
Autosomal Dominant ◽  
Clinical Signs ◽  
Clinical History ◽  
Oral Manifestations ◽  
Dental Examination ◽  
Darier’S Disease ◽  
Darier's Disease ◽  
Clinical Presentations ◽  
Wide Range ◽  
Palatal Mucosa

ABSTRACT Darier's disease (DD) is a rare autosomal dominant genodermatosis clinically manifested by greasy hyperkeratotic papules primarily affecting seborrheic areas with less frequent involvement of the oral mucosa. Oral manifestations, if present, are usually asymptomatic, and are discovered in routine dental examination. Acantholysis and dyskeratosis represented by corps ronds and corps grains are the typical histological findings. We report a case with clinical signs of DD in the palatal mucosa and skin. Skin biopsy and analysis of clinical history helped to diagnose DD. We report this case because of its clinical rarity as the prevalence of the disease has been estimated at 1/50,000-1,00,000. This could be a case of sporadic mutation as there was no family history. This case emphasizes the importance of oral examination among dermatologists, clinicians and pathologists to clinch the diagnosis of DD as it has a wide range of clinical presentations, therefore going undiagnosed for many years.

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