Pathophysiologic basis for growth failure in children with ichthyosis: an evaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure.

OBJECTIVE: Because an impaired epidermal permeability barrier is present in many of the ichthyoses, we examined the contribution of barrier failure to caloric requirements in children with ichthyosis and growth failure. STUDY DESIGN: Transepidermal water loss (TEWL) and ultrastructural parameters of the permeability barrier were evaluated in 10 hospitalized children with ichthyosis and growth failure. Nutritional intake, resting energy expenditure, and calories lost as heat of evaporation were determined. RESULTS: Mean basal TEWL rates were markedly elevated in all study patients in comparison to the expected upper limit of normal (39.6+/-20.6 vs 8.7 mL/m(2) per hour). The severity of abnormalities in the ultrastructure of permeability barrier-related structures, assessed semiquantitatively, correlated significantly to mean basal TEWL rates (P <.001). Total body daily TEWL was elevated (746 +/- 468 vs 209 mL/d), resulting in a caloric drain of 433 +/- 272 kcal/d (21 +/- 9.8 kcal/kg per day) through heat of evaporation. Nutrient intake exceeded requirements in all, but resting energy expenditure exceeded predicted in 5 of 6 patients and correlated significantly with mean basal TEWL rates (P <.005). CONCLUSIONS: A defective permeability barrier in children with ichthyosis can result in ample chronic losses of water and calories to impair growth.

Endocrine-skin interactions: cutaneous manifestations of adrenal disease, pheochromocytomas, carcinoid syndrome, sex hormone excess and deficiency, polyglandular autoimmune syndromes, multiple endocrine neoplasia syndromes, and other miscellaneous disorders

Endocrinologic disorders occasionally manifest themselves by their associated and/or induced cutaneous abnormalities. In some instances, the initial and most prominent complaints of the patient are related to alterations in the skin, and therefore the dermatologist will at times be the first physician consulted. In this review we describe the cutaneous lesions that occur in patients with Cushing's syndrome, adrenal insufficiency, pheochromocytomas, carcinoid syndrome, sex hormone excess or deficiency, polyglandular autoimmune syndromes, and multiple neoplasia syndromes. Additionally, we discuss the relationship of acanthosis nigricans and xanthomas to endocrinologic disorders and the skin lesions that occur in association with the spotty pigmentation, myxoma, endocrine overactivity syndrome, and the polyneuropathy, organomegaly, endocrinopathy, M protein, skin changes (POEMS) syndrome.

Endocrine-skin interactions

Endocrinologic disorders occasionally manifest themselves by their associated or induced cutaneous abnormalities. In some instances the initial and most prominent complaints of the patient are related to alterations in the skin, and thus the dermatologist will at times be the first physician consulted. In this article we describe the cutaneous lesions that occur in patients with acromegaly, hypopituitarism, hypothyroidism, hyperthyroidism, diabetes mellitus, glucagonomas, hypercalcemia, hypoparathyroidism, and fibrous dysplasia. In addition, we also discuss the role of the skin in vitamin D metabolism. Whenever possible and where known, we have attempted to point out the pathophysiologic mechanisms that account for the cutaneous changes.