Individuals with nonsyndromic orofacial clefts have increased asymmetry of fingerprint patterns.

Dermatoglyphic patterns on the fingers often differ in syndromes and other conditions with a developmental component, compared to the general population. Previous literature on the relationship between orofacial clefts-the most common craniofacial birth defect in humans-and dermatoglyphics is inconsistent, with some studies reporting altered pattern frequencies and/or increased asymmetry and others failing to find differences. To investigate dermatoglyphics in orofacial clefting, we obtained dermatoglyphic patterns in a large multiethnic cohort of orofacial cleft cases (N = 367), their unaffected family members (N = 836), and controls (N = 299). We categorized fingerprint pattern types from males and females who participated at five sites of the Pittsburgh Orofacial Cleft study (Hungary, United States of America (Pennsylvania, Texas), Spain, and Argentina). We also calculated a pattern dissimilarity score for each individual as a measure of left-right asymmetry. We tested for group differences in the number of arches, ulnar and radial loops, and whorls on each individual's hands, and in the pattern dissimilarity scores using ANOVA. After taking sex and site differences into account, we did not find any significant pattern count differences between cleft and non-cleft individuals. Notably, we did observe increased pattern dissimilarity in individuals with clefts, compared to both their unaffected relatives and controls. Increased dermatoglyphic pattern dissimilarity in individuals with nonsyndromic orofacial clefts may reflect a generalized developmental instability.

Folliculocystic and collagen hamartoma of tuberous sclerosis complex.

BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by tumors and hamartomas in several organs including the skin. OBJECTIVE: We sought to describe a new type of complex hamartoma in patients with TSC. METHODS: This was a retrospective clinical and histopathologic evaluation of 6 cases. RESULTS: The skin lesions consisted of large, painless, infiltrated plaques that were first noticed at birth or during early infancy on the abdomen, thigh, back, or scalp. In time, the plaques became studded with numerous follicular comedo-like openings and cysts containing and draining a keratinous or purulent material. The main histopathologic features were: abundant collagen deposition in the dermis and extending into the underlying fat; concentric, perifollicular fibrosis surrounding hair follicles; and comedones and keratin-containing cysts lined by infundibular epithelium, some of which were ruptured with secondary granulomatous reaction. Five of the 6 patients had a clinical diagnosis of TSC. LIMITATIONS: Genetic testing was performed in only one patient. CONCLUSION: This distinctive folliculocystic and collagen hamartoma has not been recognized previously in association with TSC.

Orbicularis oris muscle defects as an expanded phenotypic feature in nonsyndromic cleft lip with or without cleft palate.

Nonsyndromic cleft lip+/-cleft palate is a complex disease with a wide phenotypic spectrum; occult defects of the superior orbicularis oris muscle may represent the mildest subclinical form of the lip portion of the phenotype. This study used high-resolution ultrasonography to compare the frequency of discontinuities in the OO muscle in 525 unaffected relatives of individuals with nonsyndromic cleft lip+/-cleft palate versus 257 unaffected controls. OO muscle discontinuities were observed in 54 (10.3%) of the non-cleft relatives, compared to 15 (5.8%) of the controls-a statistically significant increase (P=0.04). Male relatives had a significantly higher rate of discontinuities than male controls (12.0% vs. 3.2%; P=0.01); female relatives also had a higher rate of discontinuities than female controls, but the increase was not statistically significant (8.9% vs. 7.4%; P=0.56). These data confirm the hypothesis that subepithelial OO muscle defects are a mild manifestation of the cleft lip phenotype. Identification of subepithelial OO muscle defects may be important in a clinical setting, as a means of providing more accurate recurrence risk estimates to relatives in cleft families. Furthermore, the expansion of the cleft lip+/-cleft palate phenotypic spectrum should improve the power of genetic studies.

Basal cell carcinoma in childhood after radiation therapy: case report and review.

We describe 2 patients who received ionizing radiation as part of a curative regimen for childhood malignancy which later developed basal cell carcinoma at an early age. They do not occur within the context of well-defined syndromes, such like basal cell nevus syndrome, albinism, or xeroderma pigmentosum. Basal cell carcinomas appears on radiated areas in older individuals, less often in younger patients, in which the period of latency between exposure to radiation and the appearance of basal cell carcinomas is shorter than in older patients. Our 2 cases presented a period of latency of 11 and 10 years. Radiated skin areas must be explored as part of the follow-up in children who received radiotherapy and should probably be maintained for life. The basal cell carcinoma in childhood is best treated by excision.