cholecalciferol and Ichthyosis

Lipids and lipid metabolism are critical factors in hair follicle (HF) biology, and cholesterol has long been suspected of influencing hair growth. Altered cholesterol homeostasis is involved in the pathogenesis of primary cicatricial alopecia, mutations in a cholesterol transporter are associated with congenital hypertrichosis, and dyslipidaemia has been linked to androgenic alopecia. The underlying molecular mechanisms by which cholesterol influences pathways involved in proliferation and differentiation within HF cell populations remain largely unknown. As such, expanding our knowledge of the role for cholesterol in regulating these processes is likely to provide new leads in the development of treatments for disorders of hair growth and cycling. This review describes the current state of knowledge with respect to cholesterol homeostasis in the HF along with known and putative links to hair pathologies.

Topics: Alopecia; Animals; Cell Differentiation; Cell Proliferation; Cholecalciferol; Cholesterol; Cicatrix; Hair; Hair Diseases; Hair Follicle; Homeostasis; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Hypertrichosis; Ichthyosis; Keratinocytes; Lipid Metabolism; Lipids; Mice; Mutation; Peroxisome Proliferator-Activated Receptors; Phenotype; Signal Transduction; Skin Physiological Phenomena; Steroids; Sterols

Vitamin D3 and its active metabolites can be generated within the skin. Their physiological activities encompass the regulation of calcium homeostasis, protooncogene expression and the production of a number of intracellular and secretory molecules from cells in various organs, including keratinocytes, fibroblasts and leukocytes. The major outcome of these activities is a decreased cellular proliferation and the modulation of inflammation and immunity, suggesting that these agents might be effective in the treatment of psoriasis, ichthyosis and allergic dermatitis. Several open and double-blind studies have indeed demonstrated some efficacy in psoriasis, but healing is slow and often incomplete. Higher doses are more effective but increase the potential of calcium deposition in the vascular tree and particularly the kidneys. Clinical results in ichthyosis and allergic dermatitis are disappointing. For the future, therapeutically more effective analogues of vitamin D3 with no calcium liability need to be developed.

Topics: Administration, Topical; Cholecalciferol; Humans; Ichthyosis; Psoriasis

PIBIDS syndrome (photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility and short stature) is a variant of trichothiodystrophy. It is a rare form of autosomal recessive congenital ichthyosis. Short stature is a vital component of PIBIDS syndrome. We present the cases of two siblings in whom we diagnosed PIBIDS syndrome. On evaluation for short stature, they were found to have severe vitamin D deficiency, which on correction led to the patients having considerable gain in stature. With this case, we would also like to propose that vitamin D deficiency could be one of the treatable causes of short stature in PIBIDS syndrome.

Topics: Adolescent; Child; Cholecalciferol; Consanguinity; Emollients; Growth Disorders; Hair Diseases; Humans; Ichthyosis; Male; Photosensitivity Disorders; Siblings; Sunscreening Agents; Trichothiodystrophy Syndromes; Vitamin D Deficiency; Vitamins

Patients with recessive X-linked ichthyosis lack activity of the enzyme steroid sulfatase. One of the more striking clinical findings in these patients is the improvement in stratum corneum shedding in the summer. Since vitamin D is one steroid responsive to sunlight, we examined whether or not vitamin D3 sulfate is a substrate for steroid sulfatase. Enzyme preparations active against other sulfated steroids caused no desulfation of vitamin D3 sulfate.

Topics: Cholecalciferol; Humans; Ichthyosis; Microsomes; Skin; Steryl-Sulfatase; Sulfatases