Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings.

Terminal osseous dysplasia with pigmentary defects (TODPD; MIM #300244) is an extremely rare, X-linked dominant, in utero male-lethal disease, characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibromatosis of childhood. Delayed/abnormal ossification of bones of the hands and feet, joint contractures, and dysmorphic facial features may accompany. A single recurrent mutation (c.5217 G>A) of the FLNA gene which causes cryptic splicing was identified as the cause of the disease. We here present the first TODPD case from Turkey with full-blown phenotype who exhibit unique additional findings, hypopigmented patch on the lower extremity following Blaschko's lines and smooth muscle hamartoma of the scalp in review of all the previously reported TODPD cases.

Long-term results in low-fluence 1064-nm Q-Switched Nd:YAG laser for melasma: Is it effective?

OBJECTIVE: This study assessed the safety and clinical efficacy of a low-fluence 1064-nm Q-switched neodymium-doped:yttrium aluminum garnet (QS-Nd:YAG) laser in the treatment of patients with melasma. METHODS: The study evaluated 34 melasma patients treated at a single institution using a 1064-nm QS-Nd:YAG laser. The laser parameters were 6 mm spot size and 2.5 J/cm2 fluence with multiple passes for 6-10 (median 8) sessions at 2-week intervals. Outcomes were evaluated using photography, the modified Melasma Area and Severity Index (mMASI) score, and patient satisfaction interviews after the last treatment and 1 year after the last treatment. RESULTS: After the low-fluence 1064-nm QS-Nd:YAG laser treatments, the mean mMASI score decreased from 6.7 ± 3.3 to 3.2 ± 1.6 (P < 0.01). After treatment completion, 20 of 34 patients (58.8%) rated themselves as having at least a 50% reduction in melasma severity. One year after the last treatment, recurrence was observed in 20 patients (58.8%) and the mean mMASI score increased from 3.2 ± 1.6 to 5.8 ± 1.9 in all patients. CONCLUSION: The recurrence of low-fluence 1064-nm QS-Nd:YAG laser rates in melasma was high when the long-term results were considered. This result may be attributed to certain patient and treatment-related factors.

Staged, open, no-ischemia nephron-sparing surgery for bilateral-multiple kidney tumors in a patient with birt-hogg-dubé syndrome.

Hereditary kidney cancer patients with bilateral multiple kidney tumors represent challenges in the era of rapidly growing minimal invasive treatment techniques. Birt-Hogg-Dubé Syndrome (BHDS) is an autosomal dominant genodermatosis characterized by a triad of benign skin tumors (fibrofolliculomas, trichodiscomas, acrochordons) together with an increased risk of developing malignant renal tumors and pulmonary disease such as pneumothoraces and multiple lung cysts. The morbidity and mortality of the affected patients is determined by the presence of the kidney tumors, which tend to be multifocal and bilateral, as observed in other hereditary kidney cancer syndromes like von Hippel-Lindau disease, familial leiomyomatosis, and hereditary papillary renal cell carcinoma. Herein, a patient with BHDS, presenting with synchronous bilateral multiple kidney tumors, is reported. The report describes the management of kidney tumors with two-stage open nephron-sparing surgery in which the nonvascular clamping technique was utilized.

Segmental neurofibromatosis: report of 3 cases.

Segmental neurofibromatosis (SNF) is an uncommon variant of neurofibromatosis type 1 (NF-1) that is characterized by café au lait spots, freckles, and/or neurofibromas limited to a body segment. In this report we describe 3 adult patients with SNF who presented with only neurofibromas. Although 2 patients had no systemic involvement, the third patient had hypertrophic cardiomyopathy, a cardiologic abnormality that is associated with neurofibromatosis.

Basal cell carcinoma of the nipple: an uncommon but ever-increasing location.

Basal cell carcinoma (BCC) is the most common malignancy of the skin. It is most frequently seen on the sun-exposed areas of the head and neck region. Occurrence of BCC on the nipple is extremely rare, though the number of the reported cases has been increasing steadily. It has metastatic potential to regional lymph nodes; therefore a more aggressive course can be expected when compared to BCCs located at other sites. Hence, early diagnosis and treatment of BCCs located on this region is of importance. There are 39 reported cases of BCC of nipple-areola complex (NAC) in the English literature. We present an additional case of BCC located on the nipple, presenting with enlargement of the nipple as a sole clinical finding in a 60-year-old man.