Congenital smooth muscle hamartoma: prevalence, clinical findings and follow-up in 15 patients

Article Abstract:

Congenital smooth muscle hamartoma (CSMH) is thought to be an extremely rare, congenital lesion characterized by the proliferation of bundles of smooth muscle within the skin. The research literature has documented only 27 cases. This study reports on the clinical history and epidemiology of 15 children with CSMH, 11 of whom were born in the same hospital. The data suggest that this disease is not as uncommon as formerly believed, but it is readily overlooked. Based on the number of cases in the one hospital, the prevalence of this condition was estimated by the authors as being 1 in 2,600 live births. The disease is diagnosed by performing a punch biopsy of the lesions. Since not all of the cases had biopsies performed, the prevalence rate may actually be higher. Recent data from Japan suggest a prevalence rate of 1 in 1,000 births. Excess hair and skin pigment, one of the characteristics of this condition, diminishes in time in dark-skinned and suntanned children. The pseudo-Darier's sign, a transient skin contraction over the site when rubbed, was present in 12 of the cases. No malignant changes were noted during the follow-up period. Parents should be reassured that this condition is benign. (Consumer Summary produced by Reliance Medical Information, Inc.)

Abnormalities, Statistics, Birth defects, Skin, Skin abnormalities, Hamartoma

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Nevus flammeus: discordance in monozygotic twins

Article Abstract:

Nevus flammeus is a flat red to purple birth mark or port-wine stain that is believed to be inherited and present at birth. These skin lesions may be located anywhere but are most often found on the face. This facial deformity is a psychological burden for the child and often parents of these children will avoid having more children out of fear this skin abnormality may recur. There has been some suggestion that this condition is autosomal dominant, a pattern of inheritance in which transmission of a dominant gene on a chromosome causes the lesion to be present. Two cases are presented of identical twins, where in each case one of the identical twins but not the other twin had a nevus flammeus. One twin of a pair of three year-old girls had a nevus on her left cheek, and one twin of a pair of 13-year-old boys had a nevus on his neck. These occurrences in two pairs of identical monozygotic (from one egg) twins appears to indicate that the nevus occurs not as a part of the genetic code of the individual but rather results from mishap to the developing embryo. Today there is a treatment available that sometimes can lighten the stain and reduce the psychological distress. (Consumer Summary produced by Reliance Medical Information, Inc.)

Genetic aspects, Birthmarks

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Aplastic anemia in neonatal lupus erythematosus

Article Abstract:

Neonatal lupus erythematosus (NLE) may be associated with a severe, life-threatening condition such as aplastic anemia. NLE is a rare disorder characterized by transient skin lesions, congenital heart defects or both. An infant who was seen at five months of age with severe anemia and a rash on the face and neck was given packed red cell transfusions and a three-week course of high-dose steroid therapy. The steroid therapy failed, and the infant subsequently developed a bacterial infection that led to kidney failure and death. The aplastic anemia apparently resulted from abnormal function of the infant's immune system which suppressed the formation and development of blood cells.

Complications and side effects, Diseases, Infants (Newborn), Neonatal diseases, Lupus erythematosus, Aplastic anemia

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