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1.
Annals of Dermatology ; : 159-163, 2020.
Article Dans Anglais | WPRIM | ID: wpr-811080

Résumé

Happle-Tinschert syndrome is a rare disease characterized by unilateral, segmentally arranged basaloid follicular hamartoma (BFH) with osseous, dental, and cerebral anomalies. Although BFH has been demonstrated to be associated with mutations in the patched gene, the genetic basis for Happle-Tinschert syndrome is still unknown. We describe a case of Happle-Tinschert syndrome in a 26-year-old female. The patient presented with unilateral skin color change to brownish papules and atrophoderma following the development of Blaschko's lines, plantar pitting, and nail dystrophy on the right side of the body. She also had scoliosis, hemihypotrophy, and dental anomalies. The skin lesions were histologically confirmed as BFHs. Next-generation sequencing of the patient's genomic DNA obtained from a peripheral blood sample identified no pathogenic mutation. This case illustrates the characteristic clinical features of Happle-Tinschert syndrome. Thus far, 14 cases of Happle-Tinschert syndrome have been reported, and we report another case of this syndrome.


Sujets)
Adulte , Femelle , Humains , ADN , Hamartomes , Maladies rares , Scoliose , Peau , Pigmentation de la peau
2.
Korean Journal of Dermatology ; : 24-27, 2019.
Article Dans Coréen | WPRIM | ID: wpr-719527

Résumé

Canalicular adenoma is a rare benign tumor that arises in the minor salivary gland. Clinically, it usually presents as an asymptomatic nodule on the upper lip or buccal mucosa. It is necessary to histopathologically differentiate canalicular adenoma from basal cell adenoma and adenoid cystic carcinoma. Canalicular adenoma shows tubular structures composed of 1 or 2 layers of columnar cells and intraluminal hemorrhage. Squamous morules, which seem to represent metaplasia, are a unique finding for this tumor. Immunohistochemical staining is often helpful for the diagnosis of canalicular adenoma, which is positive for S-100 and CK (AE1/3). Herein, we report a case of canalicular adenoma in a 71-year-old man who presented with an asymptomatic nodule on the upper lip. As far as we know, this is the first report of canalicular in Korean Dermatology Journal.


Sujets)
Sujet âgé , Humains , Adénomes , Carcinome adénoïde kystique , Dermatologie , Diagnostic , Hémorragie , Lèvre , Métaplasie , Muqueuse de la bouche , Glandes salivaires mineures
3.
Korean Journal of Dermatology ; : 645-647, 2018.
Article Dans Coréen | WPRIM | ID: wpr-718997

Résumé

No abstract available.


Sujets)
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