Klippel-Trenaunay syndrome is characterized by a triad of varicose veins, cutaneous capillary malformation, and hypertrophy of bone and soft tissue. Appropriate evaluation and treatment of children displaying features of the disease may minimize morbidity. The clinical appearance, etiology, genetics, diagnostics, and treatment of Klippel-Trenaunay syndrome are herein explored.
Pityriasis lichenoides et varioliformis acuta (PLEVA), or Mucha-Habermann disease (MHD), is a cutaneous disorder evident with crops of erythematous macules and papules, usually on the trunk and flexural areas of the extremities. Its etiology remains unknown. PLEVA is speculated to be an inflammatory reaction triggered by certain infectious agents, an inflammatory response secondary to T-cell dyscrasia, or an immune complex-mediated hypersensitivity. Histologic examination of a skin biopsy specimen is the standard for the identification of PLEVA, but definitive diagnosis may be difficult. Apart from the febrile ulcerative variant, which may be fatal, PLEVA tends to be self-limited in its course. Treatment is targeted mainly at the symptomatic relief of pruritus.
Epidermolytic hyperkeratosis is an unusual type of ichthyosis. This inherited keratinization disorder is characterized clinically by erythema, blistering, and peeling shortly after birth. It may resolve and be replaced with thick scaling. It can lead to life-threatening complications, such as sepsis. Histologically, there is a hyperkeratosis and vacuolar degeneration. Genetically, this is an autosomal dominant disease with complete penetrance; however, 50% are spontaneous mutations. The clinical phenotype is a result of alterations in the gene(s) for keratin 1 and /or 10. We review this disorder and its therapy, which is mainly symptomatic with emollients and retinoids.
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