Correlates of low bone mass in children with generalized forms of epidermolysis bullosa.

BACKGROUND: Epidermolysis bullosa (EB) is a family of rare, heterogeneous, genetic disorders characterized by fragility of the skin and mucous membranes. Reduced bone mass and fractures have been recognized as complications of generalized forms of EB. OBJECTIVES: We sought to describe the range and to estimate the prevalence of low bone mass in children with generalized EB, and to identify correlates of low bone mass in this population. METHODS: This was a prospective, observational study of 24 patients with generalized EB. Each patient completed a history, physical examination, laboratory studies, bone age, and x-rays of the lumbar spine. Those aged 6 years and older underwent dual energy x-ray absorptiometry scans of the lumbar spine. Primary outcomes were areal bone mineral density (aBMD) based on chronologic age, bone age, and adjusted for height Z-score. Descriptive statistics were used to summarize results, and linear regression was used to determine factors associated with low aBMD. RESULTS: Mean lumbar spine aBMD Z-scores ± SD were: -2.6 ± 1.4 for chronologic age, -1.7 ± 1.3 for bone age, and -1.0 ± 1.2 after adjusting for height Z-score. aBMD Z-scores were less than or equal to -2 in 64% for chronologic age, 50% for bone age, and 28% after adjusting for height Z-score. aBMD correlated with height Z-score, weight Z-score, extensive blistering, immobility, albumin, hemoglobin, iron, erythrocyte sedimentation rate, and c-reactive protein values. LIMITATIONS: Small sample size was a limitation. CONCLUSIONS: Children with severe, generalized recessive dystrophic EB have low aBMD for age. Deficits in aBMD were reduced after adjusting for delayed skeletal maturation and small body size.

Bathing for individuals with epidermolysis bullosa.

Bathing is very difficult for individuals with epidermolysis bullosa (EB), although anecdotally preferred to showering. This article reviews the as yet small body of research literature that documents or quantifies the impact of bathing on EB patients.

Epidermolysis bullosa care in the United States.

There is a wide range of health care delivery systems within the United States for patients with epidermolysis bullosa (EB). They range from nonexistent, primarily because of remote geographic locations, to 4 comprehensive interdisciplinary EB centers. This article lists the subspecialties available at each of the 4 centers.

Nevi in children: a practical approach to evaluation.

Education is the cornerstone of melanoma prevention. Well-child examinations are an excellent opportunity to educate patients and parents about melanoma risk factors and prevention. The only modifiable risk factor for the development of melanoma and acquisition of nevi is level of sun exposure. Every patient who is evaluated for a melanocytic lesion should be educated about sun avoidance during midday, protective clothing including long-sleeved shirts, long pants, and hats with brims, and playing in shaded areas when outdoors. Proper application and appropriate uses of sunscreen should also be reviewed.

Holocarboxylase synthetase deficiency presenting as ichthyosis.

Holocarboxylase synthetase deficiency is a rare autosomal recessive disorder of biotin metabolism. Clinical manifestations usually present within the first few days of life and include severe acidosis, feeding difficulties, breathing abnormalities, vomiting, seizures, progressive loss of consciousness, coma, and death. Skin findings, when present, usually develop within the first weeks of life and are described as an erythroderma-like dermatitis involving the eyebrows, eyelashes, and scalp. We were asked to consult on a newborn with a collodion membrane and severe metabolic acidosis who was eventually diagnosed with holocarboxylase synthetase deficiency and ichthyosis. The diagnosis of holocarboxylase synthetase deficiency might be considered in a newborn with collodion membrane, ichthyosis, and acidosis.