We report three members of a family with congenital hypotrichosis, characterized by trichorrhexis nodosa and trichoptilosis, dry skin, keratosis pilaris and leukonychia totalis. They also developed a progressive transgrediens type of palmoplantar keratoderma, and hyperkeratotic lesions on the knees, elbows and perianal region. As far as we are aware, this combination of clinical features has not been described previously.

Vitamin A supplementation may have an adjuvant effect on the treatment of RUTI.

Immunodeficiency with hyperimmunoglobulinemia M is a rare disease characterized by very low levels of IgG and IgA and normal or high levels of serum IgM and IgD. Recurrent and severe systemic infections with pathogenic bacteria are frequent if immunoglobulin replacement therapy is not given. Histoplasmosis is a systemic granulomatous mycosis due to Histoplasma capsulatum and characterized by a particular affinity for the reticuloendothelial system. Glabrous skin involvement in histoplasmosis is highly unusual except in patients with advanced human immunodeficiency viral disease. Cutaneous histoplasmosis and granulomatous reaction were diagnosed in a 5-year-old boy with hyper-IgM disease. The lesion improved after oral ketoconazole therapy. To our knowledge, this is the first case of cutaneous histoplasmosis associated with hyper-IgM to be reported.

Background: Microalbuminuria has been shown to be predictive for clinical diabetic nephropathy. Renal functional reserve (RFR), as a response to protein loading in a short period of time, is a parameter to assess the ability of kidneys to increase the glomerular filtration rate (GFR). The aim of this study was to predict the early phase of diabetic nephropathy by measuring urinary albumin level and RFR capacity in patients with insulin-dependent diabetes mellitus (IDDM). Methodr:Twenty-two patients with lDDM were studied: 11 with a disease duration of less than 5 years (group 1) and I1 with a disease duration of more than 5 years (group 2). As the control group, 15 healthy children (group 3) were included in the study. At the beginning of the study, glucose was measured and the urinary albumidcreatinine ratio was calculated. Average glycosylated hemoglobin (HbA,c) over 1 year was determined. After protein loading (red meat containing 2 gkg of protein), the creatinine clearance was calculated at each hour for a duration of 4 h. The RFR was accepted as the peak percentage increase in GFR over the baseline value.Results: Although metabolic control in group 2 was better, the RFR in group 2 was significantly lower than in group 1 (P < 0.05). Urinary microalbumin levels between the groups did not differ ( P > 0.05). In two patients in whom microalbuminuria was detected, the RFR was much lower. Conclusions:Detecting lower RFR levels in patients with normal urinary albumin excretion, as well as in patients with microalbuminuria, may support the idea that the RFR capacity is more sensitive than microalbuminuria in assessing the early phase of diabetic nephropathy. Key wordsdiabetic nephropathy, insulin-dependent diabetes mellitus, microalbuminuria, renal functional reserve.Diabetic nephropathy develops in 30-40% of patients with insulin-dependent diabetes mellitus (IDDM).' Prediction of high-risk patients is important for the early detection of nephropathy. Increases in urinary microalbumin and low molecular weight tubular proteins are important parameters that are commonly used in the early detection of renal damage.Renal functional reserve (RFR) is the ability of kidneys to increase glomerular filtration rate (GFR) under stimuli.

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