A Rare Clinical Presentation of Darier’s Disease (original) (raw)
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Darier disease: case report with oral manifestations
Medicina oral, patología oral y cirugía bucal, 2006
Darier disease, also known as keratosis follicularis or dyskeratosis follicularis, is a rare autosomal dominant genodermatosis. It is clinically manifested by hyperkeratotic papules primarily affecting seborrheic areas on the head, neck and thorax, with less frequent involvement of the oral mucosa. When oral manifestations are present, they primarily affect the palatal and alveolar mucosa, are usually asymptomatic, and are discovered in routine dental examination. Histologically, the lesions present suprabasal clefts in the epithelium with acantholytic and dyskeratotic cells represented by corps ronds and corps grains. This paper reports a case of an adult male patient presenting clinical signs of Darier disease in the palatal mucosa and skin on the neck and upper limbs. Intraoral biopsy of the affected area, analysis of family history and evaluation by a multidisciplinary team led to the diagnosis of Darier disease. Dental professionals and pathologists should be aware of these les...
A Rare Clinical Presentation of Intraoral Darier's Disease
Case reports in pathology, 2011
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 D...
Classical Presentation of Darier's Disease: A Rare Disorder of Keratinisation
J Ayub Med Coll …, 2010
Keratosis follicularis or Darier's disease (DD), a rare autosomal dominant disorder is characterised clinically by appearance of multiple, prurutic, discrete, scaly papules affecting seborrheic areas coupled with palmar pits, nail changes and mucosal involvement. Histologicaly the lesions show suprabasal clefts with acantholytic and dyskeratotic cells. We report a case of 35 years old woman with typical clinical and histological features of Darier's disease.
Darier’s Disease: Report of a Case with Facial Involvement
Case Reports in Dermatology
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.
Darier’s Disease: A rare genodermatosis
IP innovative publication pvt. ltd, 2019
Darier’s disease or darier white disease or keratosis follicularis is a rare inherited autosomal dominant genodermatosis which are clinically characterized by multiple hyperpigmented, firm , greasy, warty lesion usually in seborrhoeic distribution. They also show palmar pits, and mucosal involvement. Histologically they present with suprabasal splitting of epidermis with presence of acnatholytic and dyskeratotic cells. we report a case of a female of 30years old who shows clinical and histological features of dariers disease. Keywords: Genodermatosis , Darier’s disease, Keratotic papules, Dyskeratosis, Hyperpigmented papules.
Localized Darier's Disease and Its Nosologic Status
International Journal of Dermatology, 1996
A 12-year-old girl was referred from the department of pediatrics, with an infected and crusted lesion on the medial aspect of the left thigh. The eruption was noticed by parents as a small red area, when the girl was 1 day old. The pustular lesions appeared on this red area after 1 week. Thereafter, similar lesions erupted at the same site every year with the onset of summer. These lesions were reported to subside every time within 2-3 weeks of the application of various medicaments. She was a product of normal vaginal delivery after an uncomplicated pregnancy. There were no birth defects.
Darier Disease – A Clinical Illustration of Its High Variable Expressivity
Cureus, 2019
Darier disease (DD), also known as dyskeratosis follicularis, is a rare genodermatosis classically characterized by persistent hyperkeratotic papules and plaques affecting the seborrheic areas. Due to its variable expressivity, it can present with very discrete clinical features for many years, leading to diagnostic errors and incorrect treatments. We report an unusual case of Darier disease in a 69-year-old male patient in which the classical features of DD had a remarkably late onset. This patient had a several decades' history of small, recurrent, scattered papules, limited to the face, for which he had received multiple diagnostic interpretations, such as acne or recurrent staphylococcal skin infection. We established the diagnosis of DD with superinfected lesions, and initiated treatment with intravenous antibiotics and oral retinoids. Results were extremely satisfactory in a very short time. This case shows an extremely unusual clinical course of Darier disease and is illustrative for the variable expressivity of the disease. It highlights the need to take dyskeratosis follicularis into account in patients with a longstanding history of persistent, hyperkeratotic papules, from unknown origin, even in the absence of the classical clinical findings.
Clinical cases of Darier-White follicular dyskeratosis
Medicni perspektivi
Follicular dyskeratosis (Darier-White disease) is a hereditary skin disease that is extremely rare in medical practice, so errors in its diagnosis can occur. It was first described in 1889 by two scientists (independently of each other), Ferdinand-Jean Darier and James White. The disease is inherited in an autosomal dominant pattern with variable gene penetrance. The main cause of this pathological process is a mutation of the ATP2A2 gene, located in the long arm of chromosome 12. Both men and women are affected with the same probability, but clinical manifestations are more severe in males. It appears, as a rule, at the age of 20; children under 10 rarely suffer from DAR; people who are over 30 years have very little chance of contracting this disease. Clinical manifestations slowly progress up to the age of 40-50, and gradually disappear in older age. Typical rashes are follicular papules, 0.2-0.5 cm in size, yellow-brown or dark brown in color, covered with dry or oily layers in ...
Darier disease: A fold (intertriginous) dermatosis
Clinics in Dermatology, 2015
Darier disease, also known as Darier-White disease, is characterized by yellow to brown, oily keratotic papules and plaques in the seborrheic areas of the face and chest. This disorder may show different clinical manifestations, such as palmoplantar pits and nail abnormalities. The trigger factors are mechanical trauma, heat, humidity, ultraviolet B, and pyogenic infections. The disease usually becomes apparent in the second decade of life. The ATP2 A2 (SERCA2) gene mutation was detected in all patients. Histopathologic changes include epidermal adhesion loss, acantholysis, abnormal keratinization, eosinophilic dyskeratotic cells in the spinous layer known as corps ronds, and the presence of grains in the stratum corneum. Although the treatment for Darier disease is unsatisfactory, some relief has been achieved with the use of corticosteroids and retinoids.
British Journal of Oral & Maxillofacial Surgery, 2005
The diagnosis of Darier disease of the oral mucosa was made only after biopsying a leukoplakia-like lesion of the palate.