1/100. dyskeratosis congenita: an autosomal recessive variant.We describe a woman with dyskeratosis congenita (DKC), microcephaly, and a purple discoloration of the tongue. The latter findings are not commonly described in males with DKC, have been reported in another female patient with this condition, and may represent the phenotype of an autosomal recessive entity of DKC. Results of x chromosome inactivation studies did not support X-linked DKC in our family. The additional findings of an affected brother and parental consanguinity support the hypothesis of autosomal recessive inheritance.- - - - - - - - - - ranking = 1keywords = congenita (Clic here for more details about this article) |
2/100. Graft-like plantar lesion secondary to possible dorsal-to-ventral cutaneous transposition.We describe a 3-year-old male patient with an unusual congenital lesion on the plantar surface of the left foot that had been asymptomatic until shortly before presentation. Histologic examination of the plaque revealed a thinner keratin layer, increased pigmentation, and a pilosebaceous unit with a visible vellus hair. We tentatively hypothesize from this single case that a disruption in the normal sequence of events of morphogenesis, and particularly in dorsal-to-ventral orientation, may have occurred in this patient.- - - - - - - - - - ranking = 0.2keywords = congenita (Clic here for more details about this article) |
3/100. Mosaic trisomy 7 in a patient with pigmentary abnormalities.Somatic chromosomal mosaicism may present as isolated pigmentary abnormalities or multiple congenital anomalies with mental retardation. Pigmentary lesions are visually dramatic and are differentiated based on appearance when the underlying pathogenesis is not known. It is now clear that mosaicism is responsible for the pigmentary findings in hypomelanosis of Ito (HI) and linear and whorled nevoid hypermelanosis (LWH). Both hypopigmentation and hyperpigmentation have been noted in the same individual, and both LWH and HI can be caused by similar chromosomal abnormalities. Both of these conditions exhibit similar systemic involvement. We present a case of LWH associated with mosaic trisomy 7 and review the relevant literature.- - - - - - - - - - ranking = 0.2keywords = congenita (Clic here for more details about this article) |
4/100. Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies.A large Filipino-American family with progressive matrilineal hearing loss, premature graying, depigmented patches, and digital anomalies was ascertained through a survey of a spina bifida clinic for neural crest disorders. deafness followed a matrilineal pattern of inheritance and was associated with the A1555G mutation in the 12S rRNA gene (MTRNR1) in affected individuals as well as unaffected maternal relatives. Several other malformations were found in carriers of the mutation. The proband had a myelocystocele, Arnold-Chiari type I malformation, cloacal exstrophy, and severe early-onset hearing loss. Several family members had premature graying, white forelock, congenital leukoderma with or without telecanthus, somewhat suggestive of a waardenburg syndrome variant. In addition to the patient with myelocystocele, two individuals had scoliosis and one had segmentation defects of spinal vertebrae. The syndromic characteristics reported here are novel for the mitochondrial A1555G substitution, and may result from dysfunction of mitochondrial genes during early development. However, the mitochondrial A1555G mutation is only rarely associated with neural tube defects as it was not found in a screen of 218 additional individuals with spina bifida, four of whom had congenital hearing loss.- - - - - - - - - - ranking = 0.4keywords = congenita (Clic here for more details about this article) |
5/100. yellow nail syndrome: resolution of yellow nails after successful treatment of breast cancer.yellow nail syndrome (YNS) is a rare entity of unknown cause in which congenitally hypoplastic lymphatics play a major role in the clinical manifestations of the disease. YNS has been associated with many malignancies and immune disorders. We report a case of new-onset YNS associated with breast cancer and dramatic improvement in the yellow nails with cancer treatment.- - - - - - - - - - ranking = 0.2keywords = congenita (Clic here for more details about this article) |
6/100. Benign melanocytic proliferative nodule within a congenital naevus.A neonate presented with a deeply pigmented papule within a medium-sized congenital naevus. Histologically, this proved to be a benign proliferative nodule in a congenital naevus. This case is presented to highlight the occurrence of this lesion, the main differential of which is the rare entity of true congenital melanoma.- - - - - - - - - - ranking = 1.4keywords = congenita (Clic here for more details about this article) |
7/100. Hypomelanosis of ito and a 'mirror image' whole chromosome duplication resulting in trisomy 14 mosaicism.We describe a female infant with multiple congenital anomalies including unusual hyperpigmentation, tetralogy of fallot, absent corpus callosum and wide prominent nasal bridge. The infant was initially seen for genetic consultation on day one after birth. Chromosome analysis from cultured lymphocytes showed a normal 46,XX karyotype. However, cultured skin fibroblasts showed mosaicism with 46,XX,add(14)(q32).ish psu dic dup(14)(q32p13)(wcp14 )/46,XX complements. A review of the published report with chromosome mosaicism and hypomelanosis of Ito (HMI) is included. We suggest that the trisomy 14 mosaicism seen in fibroblast cultures has importance in the expression of pigmentation dysplasias in this patient. Pigmentary anomaly may be due to loss or gain of specific genes that influence pigmentation located on the long arm of chromosome 14 in this patient.- - - - - - - - - - ranking = 0.2keywords = congenita (Clic here for more details about this article) |
8/100. Recurrent digital fibroma, focal dermal hypoplasia, and limb malformations.Recurrent digital fibroma of infancy generally is considered a sporadic tumor of childhood. We describe the case of a mother with recurrent digital fibroma at a young age who gave birth to a daughter with focal dermal hypoplasia, coloboma of the iris and eyelids, anal atresia, and extensive limb malformations. When the infant was 3 months old, fibromas started to appear at the fingertips. The cases of three additional patients are described, with a similar combination of multiple digital fibromas, pigmented marks on the temporal region, and limb malformations. One of these patients has consanguineous parents. The clinical findings overlap partially with Gorlin-Goltz syndrome, which has been renamed by some authors "microphthalmia with linear skin defects" (MLS). Since the skin signs are clearly different, however-more like those of Setleis syndrome ("forceps mark" temporal dysplasia)-the patients described here seem to have a new combination of congenital malformations. Deletion of distal Xp, known to occur in some MLS patients, was not detected using cosmids in fluorescence in situ hybridization. This pattern of digital fibroma with congenital malformations seems to represent a new syndrome.- - - - - - - - - - ranking = 0.4keywords = congenita (Clic here for more details about this article) |
9/100. Hemimegalencephaly in hypomelanosis of Ito: early sonographic pattern and peculiar MR findings in a newborn.Sonography is a reliable tool for the evaluation of the most severe congenital abnormalities of the brain; in the present case it provided an early demonstration of hemimegalencephaly in hypomelanosis of Ito in a newborn affected by body hemihypertrophy and skin lesions. Serial magnetic resonance (MR) examinations confirmed the asymmetry of the cerebral hemispheres, and documented the evolution of the hemispheric growth and the presence of unusual aspects.- - - - - - - - - - ranking = 0.2keywords = congenita (Clic here for more details about this article) |
10/100. Congenital grouped pigmentation of the retina. Histopathologic description and report of a case.Gross examination of an eye removed at autopsy from a 4-year-old child with congenital heart disease revealed typical grouped pigmentation of the retina. Routine light microscopy and flat preparation of the retinal pigment epithelium demonstrated the lesions to consist of focal areas of increased concentration of pigment granules in otherwise normal retinal pigment epithelial cells. The pigment granules were large and football shaped. The overlying photoreceptors showed no abnormalities, possibly explaining the clinical features of normal visual acuity and visual fields in this patient. We believe that this is the first histologic description of congenital grouped pigmentation reported in the English literature. A differential diagnosis and brief review of the pertinent literature are also presented.- - - - - - - - - - ranking = 0.4keywords = congenita (Clic here for more details about this article) |
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