1/8. Koraxitrachitic syndrome: a syndromic form of self-healing collodion baby with residual dappled atrophy of the derma.We report on a child with a generalized skin disorder associated with other minor anomalies. At birth, the child presented as a collodion baby, with patchy erythema, generalized irregular dermal atrophy, alopecia, absent eyelashes and eyebrows, and conjunctival pannus. He also had hypertelorism, prominent nasal root, large mouth, micrognathia, brachydactyly, syndactyly involving all interdigital spaces, and camptodactyly of fingers III-V. The hyperkeratotic membrane thinned progressively, leaving a mottled reticulated skin atrophy, with patchy areas of yellowish hyperpigmentation and papyraceous areas. hair and nails were dystrophic. Mental development was borderline normal. The histological hallmarks of the skin manifestations combined orthokeratotic hyperkeratosis and marked atrophy of the dermis. The dermal extracellular matrix was immature, and factor xiii-a positive dendrocytes were rare and globular rather than dendritic. We frame as a hypothesis that the disease is due to or associated with a defect in maturation of a subset of dermal dendrocytes during fetal life. This entity may be designed as the koraxitrachitic syndrome (kappaomicronrhoalphaxi:grapnel- taurhoalphachiiotatauepsilonsigma: roughness) copyright 1999 Wiley-Liss, Inc.- - - - - - - - - - ranking = 1keywords = baby (Clic here for more details about this article) |
2/8. Spontaneously improving Michelin tire baby syndrome.Michelin tire syndrome is described in a 22-month-old girl of Indian origin who had generalized folding of the skin, esotropia, epicanthic folds, and delayed speech. Histopathology showed diffuse lipomatous hypertrophy. The skin changes showed partial improvement on follow-up. We report this case because of its rarity. Furthermore, the spontaneous improvement is significant, unlike the persistent course of other congenital nevi.- - - - - - - - - - ranking = 680.01755492374keywords = baby syndrome, baby (Clic here for more details about this article) |
3/8. hearing impairment, undescended testis, circumferential skin creases, and mental handicap (HITCH) syndrome: a case report.We report on a 3-year-old boy with circumferential skin creases as seen in Michelin tire baby syndrome (MTBS), hearing impairment, undescended testes, short stature, and mental handicap. Skin biopsy from the inguinal region showed degenerative collagen, which has never been found in MTBS. Similar clinical manifestations shared by our patient and a boy reported previously suggest a new clinical entity, in which degenerative collagen is etiologically involved. We propose an acronym to designate it: hearing impairment, undescended testis, circumferential skin creases, and mental handicap (HITCH) syndrome.- - - - - - - - - - ranking = 170.00438873094keywords = baby syndrome, baby (Clic here for more details about this article) |
4/8. Aplasia cutis congenita. A case report and annotation.Aplasia cutis congenita (ACC) including epidermolysis bullosa (EB) are rare congenital conditions. In ACC there is a localised absence of skin while in EB blistering occurs with a split at the epidermal or dermal level. In the past these 2 conditions have been reported to occur in the same patient. A case of a Gurkha baby girl illustrating just such an entity with severe erosive defects over the head, face, trunk and acral parts of the limbs presenting at birth is reported. There was also widespread blistering over the chest, abdomen and back. The baby died after 3 days from serious complications.- - - - - - - - - - ranking = 0.4keywords = baby (Clic here for more details about this article) |
5/8. A baby with a cervical "braid".Among the anomalies and curiosities of nature, a braid-like cervical protrusion is a rare anatomical finding. Most similar reported cases of tail-like appendages have been observed in the sacrococcygeal or lumbar region. Herein we describe a newborn with a high cervical malformation located along the vertebral column, and its histological features. To our knowledge, this congenital anomaly has never been reported in the English literature.- - - - - - - - - - ranking = 0.8keywords = baby (Clic here for more details about this article) |
6/8. Aplasia cutis congenita with chromosome 12q abnormality.A 32 week, small for dates baby with aplasia cutis congenita had an unbalanced translocation, being monosomic for distal 12q and trisomic for distal 1q. As far as is known, the association between extensive skin defects and a chromosomal abnormality has not been reported before. Keratin genes have been located in a different area of 12q, but this case may indicate other candidate areas to explore. karyotyping should be undertaken in all babies with aplasia cutis.- - - - - - - - - - ranking = 0.2keywords = baby (Clic here for more details about this article) |
7/8. New syndrome?: MCA/MR syndrome with multiple circumferential skin creases.We describe a combination of multiple congenital anomalies, severe psychomotor retardation and symmetrical circumferential skin creases of arms and legs in a 4.5-year-old male. Craniofacial anomalies included: a high forehead, elongated face, bitemporal sparseness of hair, broad eyebrows, blepharophimosis, bilateral microphthalmia and microcornea, severe optic nerve hypoplasia, epicanthic folds, telecanthus, broad nasal bridge, puffy cheeks, microstomia, cleft palate, enamel hypoplasia, micrognathia, microtia with stenotic ear canals and posteriorly angulated ears. Head circumference was on the 10th centile and a CT scan showed dilated lateral ventricles. intracranial pressure was not increased. Other abnormalities included: short stature, loose skin, hypotonia, pectus excavatum, inguinal and umbilical hernias, severe scoliosis, hypoplastic scrotum, long fingers and overlapping toes. echocardiography showed tricuspid regurgitation. chromosomes were apparently normal. Differentiation from "Michelin tire baby syndrome" and amniotic band sequence is discussed.- - - - - - - - - - ranking = 170.00438873094keywords = baby syndrome, baby (Clic here for more details about this article) |
8/8. collodion baby concomitant with congenital hypothyroidism: a patient report and review of the literature.collodion baby is a rare congenital disorder resembling harlequin fetus but is milder in degree. Although it has been reported that harlequin fetus is associated with kidney abnormalities, malignant keratoma, micromelia, polydactyly, thymic atrophy and thyroid aplasia, there are few reports of collodion baby associated with congenital abnormality and/or disease in the literature. A newborn infant admitted with shedding of the skin and diagnosed as collodion baby concomitant with congenital hypothyroidism is presented here. This is the first case of collodion baby associated with congenital hypothyroidism in the literature to our knowledge.- - - - - - - - - - ranking = 1.6keywords = baby (Clic here for more details about this article) |