Manifestations of Gorlin-Goltz syndrome.

INTRODUCTION: Gorlin-Goltz syndrome is an uncommon hereditary condition caused by mutations in the PTCH1 gene causing a wide range of developmental abnormalities. Multiple basal cell carcinomas, palmoplantar pits and jaw cysts are cardinal features. Many clinicians are unfamiliar with the different manifestations and the fact that patients are especially sensitive to ionizing radiation. MATERIAL AND METHODS: This was a retrospective analysis of patients with Gorlin-Goltz syndrome seen at the Department of Dermatology and Allergy Centre or at Department of Plastic Surgery, Odense University Hospital, Denmark, in the period from 1994 to 2013. RESULTS: A total of 17 patients from eight families fulfilled the diagnostic criteria. In all, 14 patients had basal cell carcinomas, 12 patients had jaw cysts and ten patients had calcification of the falx cerebri. Other clinical features were frontal bossing, kyphoscoliosis, rib anomalies, coalitio, cleft lip/palate, eye anomalies, milia and syndactyly. In one family, medulloblastoma and astrocytoma occurred. Traditional treatment principles of basal cell carcinomas were used including radiotherapy performed in six patients. PTCH1 mutations were identified in five families and none of these mutations had previously been described. CONCLUSION: The patient cohort illustrates classic and rare disease manifestations. It is necessary to remind clinicians that radiation therapy in Gorlin-Goltz syndrome is relatively contraindicated. Today, mutation analysis can be used for confirmation of the diagnosis and for predictive genetic testing. Patients should be offered genetic counselling and life-long surveillance. FUNDING: not relevant. TRIAL REGISTRATION: not relevant.

[Erythema multiforme-like reaction to para-phenylenediamine]. / Erythema multiforme-lignende reaktion på grund af hennatatovering.

A case of a 15 year-old girl who developed an erythema multiforme-like reaction to para-phenylenediamine (PPD) after Henna tattoos is described. The patient was treated successfully with oral prednisolone and highly potent topical corticosteroids. The patient developed a long-lasting post-inflammatory hyperpigmentation. Potential hyperreactive response was prevented by applying the PPD patch for only 30 minutes, but still there was a significantly positive reaction. This case highlights the need to ban the use of para-phenylenediamine and its derivates in dyes.

[Staphylococcal scalded skin syndrome in adults]. / Staphylococcal scalded skin syndrome hos voksne.

We describe a case of adult staphylococcal scalded skin syndrome (SSSS) in a 91-year-old woman. The patient had a Staphylococcus aureus infection in her right ear with redness and yellow secretion. A few days later she developed Nikolsky sign-positive tender enlarged flaccid bullae involving most parts of her body. The bullae ruptured easily and left a erythematous base. The histopathological changes were characteristic for adult SSSS. The patient was well-treated with intravenous dicloxacillin, topical antibiotic and antiseptic treatment. The patient had marked thrombocytosis, but no interest in further examination.

[Dermatofibrosarcoma protuberance]. / Dermatofibrosarcoma protuberans.

A case of a 33-year-old Caucasian with asymptomatic subdermal dermatofibrosarcomal protuberance of the forehead. Surgical excision with three cm margin and early reconstruction with intraoperative haematurea catheter expansion reducing the defect by 50% and subsequent full thickness skin transplantation of the forehead bone was performed. The case stresses the importance of pathological evaluation of any resected tissue and supports the benefit of intraoperative tissue expansion of the forehead.

[Carotinaemia in patient with excessive beta-carotene food-intake and dysregulated diabetes mellitus]. / Karotinaemi hos patient med excessivt betakarotinfødeindtag og dysreguleret diabetes mellitus.

A case of carotinaemia in a patient with excessive beta-carotene food-intake, diabetes mellitus and physiological amenorrhea is reported. The patient developed yellow discolouration in the palms and the soles of her feet. Blood samples showed a significantly increased lever of serum beta-carotene, but normal vitamine A value and liver enzymes. The patient reported an excessive intake of carrots (approximately 1 kg per day). The status of physiological amenorrhoea and dysregulated diabetes mellitus may have deteriorated the yellow discolouration of the skin.

[Glucagonoma syndrome without diabetes mellitus]. / Glukagonomsyndrom uden diabetes mellitus.

A patient developed depression, weight loss, ulcers and a migrating, denuded erythematous skin area. Punch biopsy revealed necrolytic migrating erythema. Computerised tomography and endoscopic ultrasound showed a solid tumour of the pancreas. A blood sample showed an increased level of glucagon without diabetes. Glucagonoma syndrome is characterized by glucagon overproduction, diabetes, depression, deep venous thrombosis and necrolytic migrating erythema. Glucagonoma is frequently diagnosed late which increases the risk of metastases. It is important not to rule out glucagonoma in patients with a relevant clinical picture but without diabetes.