D. Bleidl

Identification of an Interstitial 18p11.32-p11.31 Duplication Including the EMILIN2 Gene in a Family with Porokeratosis of Mibelli

Porokeratosis is a rare disease of epidermal keratinization characterized by the histopathological feature of the cornoid lamella, a column of tightly fitted parakeratocytic cells, whose etiology is still unclear. Porokeratosis of Mibelli is a subtype of porokeratosis presenting a single plaque or a small number of plaques of variable size located unilaterally on limbs. It frequently appears in childhood and occurs with a higher incidence in males. Cytogenetic analyses were performed in all members of the family on lesioned and uninvolved skin. An array-CGH analysis was also performed utilizing the Human Genome CGH Microarray Kit G3 400 with 5.3 KB overall median probe spacing. Gene expression was performed on skin fibroblasts. In this study, we describe a Caucasian healthy 4-year-old child and his father showing features of porokeratosis of Mibelli. Array-CGH analysis revealed an interstitial 429.5 Kb duplication of chromosome 18p11.32-p11.3 containing four genes, namely: SMCHD1, EMILIN2, LPIN2, and MYOM1 both in patient and his father. EMILIN2 resulted overexpressed on skin fibroblasts. Also other members of this family, without evident signs of porokeratosis, carried the same duplication. Among these genes, we focused our attention on elastin microfibril interfacer 2 (EMILIN2) gene. Apoptosis plays a fundamental role in maintaining epidermal homeostasis, balancing keratinocytes proliferation, and forming the stratum corneum. EMILIN2 is known to trigger the apoptosis of different cell lines negatively affecting cell survival. It is expressed in the skin. We could speculate that the duplication and overexpression of EMILIN2 cause an abnormal apoptosis of epidermal keratinocytes and alter the process of keratinization, even if other epigenetic and genetic factors could also be involved. Our results could contribute to a better understanding of the pathogenesis of porokeratosis of Mibelli.

Interferon α 2B for treatment of complex cutaneous haemangiomas of infancy

Abstract Interferon alpha 2b for the treatment of complex haemangiomas of infancy (HI) and childhood. Background Recombinant interferon α has been used with success in the treatment of complex haemangiomas of infancy. Materials and methods Eleven infants and children (10 females and 1 male) with complex haemangiomas (age 3–14 months) were treated with interferon α 2b by subcutaneous infection of up to 1 million UI/m 2 /day three times a week for 2 weeks; then the dosage was increased to 3 million UI/m 2 /day three times a week. The duration of treatment ranged from 6 to 14 months. A decrease of 50% or more in the dimension of haemangiomas that was maintained for at least 6 months during the treatment or after the withdrawal of the medication was considered a consequence of therapy. Results In 1 case regression of HI was of 20%; in the other 10 cases, regression ranged from 60% to 90%. The side effects of interferon therapy were mild and transient. Our treatment schedule shows that the administration of interferon α 2b three times a week is as effective as the daily administration of the drug. In our opinion interferon α 2b is a safe agent in the treatment of complex haemangiomas of infancy and therefore should be considered a first line therapeutic option.