Congenital zinc deficiency from mutations of the SLC39A4 gene as the genetic background of acrodermatitis enteropathica.

Acrodermatitis enteropathica (AE) is an autosomal recessive disorder with the clinical triad of acral dermatitis, diarrhea and alopecia. AE is known to be caused by mutations of the SLC39A4 gene on the chromosome band 8q24.3, encoding the zinc transporter in human. An 8-month-old Korean boy presented with eczematous changes on the inguinal area and knees and was diagnosed with AE. Blood tests revealed a markedly decreased level of plasma zinc, and his symptoms improved on oral zinc replacement. To confirm the diagnosis of AE from congenital zinc deficiency, direct sequencing analysis of SLC39A4 was performed and revealed that he was compound heterozygous for a known missense mutation (Arg95Cys) and a novel splicing mutation in the donor site of intron 7 (c.1287+2T>C). Family study showed that his parents were heterozygous carriers of the mutations. To the best of our knowledge, this is the first report of genetically confirmed AE in Korea.

Recalcitrant oral pyoderma gangrenosum in a child responsive to cyclosporine.

We report a case of recalcitrant pyoderma gangrenosum which developed on the tongue of an 8-year-old, previously healthy boy without any systemic associated disease. The lesion was confined to the tongue and was not responsive to conventional treatment with prednisolone and sulfa drug, but it showed dramatic improvement with oral cyclosporine therapy. In addition, the histopathology of the lesion included many eosinophils, which caused difficulties in diagnosis to differentiate this condition from other oral ulcerative diseases showing tissue eosinophilia including eosinophilic ulcer of the tongue.

Fungal melanonychia.

Melanonychia is characterized by tan, brown, or black pigmentation within the nail plate. Fungal melanonychia is rare and may simulate longitudinal melanonychia caused by melanocytic lesions. We report six cases of fungal melanonychia which were confirmed histopathologically or mycologically. On culture, Candida and/or Aspergillus species were isolated in four patients. The nail pigmentation improved after treatment with antifungal agents in all cases, but one patient experienced a new lesion on another nail after cessation of treatment. Fungal infection should be considered as a cause of melanonychia, and fungal melanonychia should be differentiated from the melanonychia caused by melanocytic lesions, particularly by subungual melanoma.

A Case of Gardner's Syndrome Associated with Desmoid Tumor.

Desmoid tumors are uncommon benign neoplasm of the fibroblasts. They occur rarely in the general population, but they are comparatively common in patients with familial polyposis coli with or without other elements of Gardner's syndrome. Herein, we report a 16-year-old woman with Gardner's syndrome complicated by desmoid tumors on the right subscapular area.

A case of eccrine spiradenoma in a patient with neurofibromatosis.

Neurofibromatosis is a systemic hereditary disorder with varied manifestations in bone, soft tissue, the nervous system and skin. Cutaneous manifestations of neurofibromatosis are characterized by café-au-lait macules, multiple neurofibromas, Lisch nodules and intertriginous freckling. Some benign or malignant tumors such as juvenile xanthogranuloma, pheochromocytoma, and malignant melanoma can accompany neurofibromatosis. But, in the English literature, no case of eccrine spiradenoma associated with neurofibromatosis has been reported. Eccrine spiradenoma is a benign uncommon neoplasm of skin adnexa. It presents as a painful, slow-growing and solitary nodule on the head or upper trunk. Here, we report a rare case of eccrine spiradenoma in a patient with neurofibromatosis.

Two cases of linear alopecia on the occipital scalp.

Alopecia of a scalp shows various shapes and extents of hair loss, from a small round patch to polymorphous patches or total global alopecia. But alopecia of a linear shape is very rare. Only a few such cases have currently been reported in the medical literature. We recently had the chance to observe and treat two cases of linear alopecia that developed on the occipital scalp. The lesions themselves were like alopecia areata that shows a smooth bald area without any abnormality except the hair loss, but histopathologically, the lesions were compatible with lupus erythematosus profundus.