Darier's (Darier–White) disease/keratosis follicularis

Sehgal, Virendra; Srivastava, Govind

doi:10.1111/j.1365-4632.2004.02408.x

Cited by 70 publications

(91 citation statements)

References 157 publications

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“…The current condition is somewhat suggestive of KF because both conditions not only demonstrate similar esthetic qualities but because they are both known to show full penetrance later in life, possibly during teenage years or thereafter [17]. Still, the lack of malodorous lesions as well as scalloping or longitudinal ridging of the nails suggests a non-KF etiology of our specific case [18]. Furthermore, KF patients are often subject to various neuropsychiatric conditions that were not evident in this patient [16,19].…”

Section: Discussionmentioning

confidence: 63%

Multiple Oral Mucosal Hamartomas in a 34-Year Old Female

Elo

Sun

Laudenbach

et al. 2017

Head and Neck Pathol

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reported first noticing these lesions approximately 10 years prior. She also denied any history of oral surgery, facial trauma, and alcohol, tobacco, or recreational drug use. The patient's past medical history was significant for left and right mastectomy for bilateral ductal carcinoma and partial thyroidectomy for microcarcinoma. She received blood transfusions at multiple points during her surgical journey but her current medical regimen included only levothyroxine. Clinical FindingsIntraoral examination (Fig. 1) revealed generalized multiple white-pink round/oval papules on the patient's lips. She was noted to have a distinct 6 mm × 5 mm × 3 mm papillary lesion on the facial gingiva between teeth #25 and 26 with smaller lesions extending slightly inferiorly to the distal of teeth #27 and 28. Similar small patches of lesions were noted on her contralateral mandibular quadrant. Also noted was a 7 mm × 3 mm white lesion on her right buccal mucosa just superior to the occlusal plane on the distobuccal cusp of tooth #31. In addition, pink papillary growths were found on the palatal gingiva of teeth #1, 2, 3, 6, 7, 9, 10, and 11 (Fig. 2) along with a similar but white papillary lesion on the attached buccal gingiva of tooth #15 measuring 5 mm × 5 mm × 5 mm. Another 3 mm × 7 mm papillary cluster was noted on the lingual mandibular gingiva near teeth #21 and 22. White gingival tissue was noted on the crest of her #14 edentulous ridge site (Fig. 3). None of these lesions were removable with gauze. The tongue was otherwise normal, as was the floor of her mouth. Radiographic imaging of the maxillomandibular region was otherwise unremarkable.Abstract A case of Cowden syndrome (CS) is described in a 34-year-old African American female who reported a history of breast and thyroid malignancies. Clinical examination demonstrated multiple soft, white-pink papules across multiple mucosal surfaces of the oral cavity. Microscopy of the lesions revealed hyperkeratotic surface squamous epithelium with papillomatosis and acanthosis along with elongated rete processes. A genomic polymerase chain reaction direct sequencing using the patient's blood was positive for mutations of the PTEN gene typical of CS.

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Section: Discussionmentioning

confidence: 63%

Multiple Oral Mucosal Hamartomas in a 34-Year Old Female

Elo

Sun

Laudenbach

et al. 2017

Head and Neck Pathol

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“…The presence of family history was reported as 71% in the study by Burge and Wilkinson 1 and 42% by Zeglaoui et al 7 In the current study, 22% of patients had a family history (Table 2). Skin findings usually start at the first or second decade of life and peak at puberty 10 . Sweating, sebum excretion, or changes in bacterial flora may lead to an increase in disease activity during puberty.…”

Section: Discussionmentioning

confidence: 99%

Darier's disease: Clinical and demographic features of nine cases

Savas¹,

Aksu²,

Sarikaya³

et al. 2018

TURKDERM

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“…Drug treatment is done with the use of topical and oral retinoids, tacrolimus, topical 5-fluorouracil, calcipotriol [1] [3] [11] [18]. Oral retinoids, such as acitretin and isotretinoin, have been the most effective treatment for DD, reducing symptoms in 90% of the affected individuals.…”

Section: Discussionmentioning

confidence: 99%

“…Mainly characterized by fatty, brownish, hyperkeratotic, pruritic, and unpleasant odorous papules that group together to form verrucous-looking plaques, predominantly in seborrheic areas, areas of flexure, palmar region and plantar trunk and face [3] [4]. It also presents typical nails, oral mucosa changes [3], scalp involvement that can be severe, however hair loss is rare [1]. DD has a chronic course with frequent relapses.…”

Section: Introductionmentioning

confidence: 99%

“…It is classified as a rare autosomal dominant inheritance genodermatosis related to the defective functioning of the calciumATPase-2 pump in the reticulum which is responsible for the acantholytic dyskeratosis seen in histopathology [1] [2]. Mainly characterized by fatty, brownish, hyperkeratotic, pruritic, and unpleasant odorous papules that group together to form verrucous-looking plaques, predominantly in seborrheic areas, areas of flexure, palmar region and plantar trunk and face [3] [4].…”

Section: Introductionmentioning

confidence: 99%

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Evaluation of the Therapeutic Response and Improvement in the Quality of Life of the Patient with Darier Disease to Acitretin through an Analogy between Close Relatives

Miguel¹,

Reis²,

Santos³

et al. 2017

JBM

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Darier disease (DD), also known as follicular keratosis, is a rare autosomal dominant hereditary acantholytic dermatosis caused by a mutation in the ATP2A2 gene. Skin lesions are characterized by persistent confluent papules, preferentially located on the seborrheic areas of the face, chest and back. The hands, feet and nails are also commonly affected. DD has a chronic course with frequent relapses. Their treatment is often difficult and unsatisfactory. We present the case of a 54-year-old male with a history of keratotic papules with a brownish-black color, with a foul-smelling, pruritic and ardent appearance on the back and trunk, since the age of 19, which worsen in the summer. His 27-year-old daughter has a similar picture with her skin lesions started at age of 17 in the region below the breast, back, trunk, feet and hands. After the skin biopsy, the diagnosis was confirmed and acitretin 30 mg/day was instituted. The importance of this case report is to alert health professionals that the diagnosis of DD should be considered in family members of patients, especially those in the first degree, and also in patients with follicular keratolytic dermatoses, being an important differential diagnosis of this group of patients diseases.

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Darier's (Darier–White) disease/keratosis follicularis

Cited by 70 publications

References 157 publications

Multiple Oral Mucosal Hamartomas in a 34-Year Old Female

Multiple Oral Mucosal Hamartomas in a 34-Year Old Female

Darier's disease: Clinical and demographic features of nine cases

Evaluation of the Therapeutic Response and Improvement in the Quality of Life of the Patient with Darier Disease to Acitretin through an Analogy between Close Relatives

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