Cases reported "Skin Abnormalities"

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1/161. 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.
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ranking = 1
keywords = congenita
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2/161. anterior chamber eye anomalies, redundant skin and syndactyly--a new syndrome associated with breakpoints at 2q37.2 and 7q36.3.

    We report a 34-year-old female with a de novo balanced reciprocal translocation involving 2q37.2 and 7q36.3. She has a unique combination of multiple congenital malformations that include redundant skin, complete tissue syndactyly of the hands and feet, hirsutism, polycystic ovaries and bilateral anterior chamber eye anomalies. Her son has inherited the unbalanced product (46,XY,der(2) t(2;7)(q37.2;q36.3). He has a similar clinical picture with additional features including complex congenital heart disease, post axial polydactyly, hypotonia and global developmental delay. The breakpoints may indicate the location of the gene(s) responsible for this unique combination of features.
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ranking = 2
keywords = congenita
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3/161. 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.
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ranking = 0.0068360996334941
keywords = defect
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4/161. Circumferential abdominal skin defect possibly due to umbilical cord encirclement.

    We report on a newborn black male twin with a distinctive circumferential abdominal skin defect who was identified through the Active Malformation Surveillance Program at the Brigham and women's Hospital. There were no other malformations, and amniotic disruption was not present. Although it cannot be proven, we believe that this skin defect may have been caused by in utero encirclement of the abdomen by an umbilical cord.
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ranking = 0.041016597800965
keywords = defect
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5/161. Disorganisation: a case with popliteal pterygia and placental-skin appendages.

    We report a girl with congenital anomalies which include amniotic rings and scars, cleft lip and palate, thumb abnormalities, hexadactyly of feet, severe flexion deformities of legs and unusual finger-like appendages which were attached to the placenta. We suggest this patient represents another example of human homologue for the mouse mutant disorganisation (Ds).
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ranking = 1
keywords = congenita
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6/161. Mandibulo-acral dysplasia in a one-year-old boy.

    We report on a 1-year-old boy with Mandibulo-acral dysplasia, a rare autosomal recessive syndrome (MIM 248370). He presented at the age of 6 months with short stature, scarce brittle hair and thin skin mainly on the skull with visible veins. The facial appearance was typical with micrognathia, prominent eyes and a thin nose. Hypoplastic terminal phalanges and acroosteolysis were present. Psychomotor development is normal.
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ranking = 0.72356650798388
keywords = dysplasia
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7/161. Bart syndrome: the congenital localized absence of skin may follow the lines of Blaschko. Report of six cases.

    Three cutaneous manifestations are characteristic of Bart syndrome: congenital localized absence of skin (CLAS), mucocutaneous blistering, and nail abnormalities. Six cases of Bart syndrome are herein reported. Localized absence of skin is present at birth, particularly on the anterior aspects of the lower extremities and dorsa of the feet. Physical trauma in utero has been proposed as a mechanism to explain the denuded areas on the limbs. The recurrent, highly similar pattern of the congenital defect in regard to location and clinical appearance in our patients and in most of the reported cases strongly suggests that trauma is too simplistic an explanation. Because of the observed bilateral and symmetric distribution of denuded areas in an S-shaped broad band, their sharply demarcated borders, the involvement of the toe webs, and the frequent similar involvement of the soles, we suggest that congenital localized absence of skin in Bart syndrome may follow the lines of Blaschko.
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ranking = 7.0068360996335
keywords = congenita, defect
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8/161. Cardio-facio-cutaneous syndrome phenotype in an individual with an interstitial deletion of 12q: identification of a candidate region for CFC syndrome.

    We report on a 19-month-old girl who presented with the phenotype of cardio-faciocutaneous (CFC) syndrome including characteristic minor facial anomalies, cardiac defect, ectodermal anomalies, and developmental delay. cytogenetic analysis showed the presence of an interstitial deletion of one chromosome 12, del(12)(q21.2q22), confirmed by fluorescence in situ hybridization with chromosome band specific probes. Controversy exists as to whether CFC and noonan syndrome (NS) are distinct disorders, a contiguous gene syndrome, or allelic variants. The identification of the del(12) in this patient, in a region distinct from the putative NS locus, supports the view that CFC is a genetically distinct condition from NS. In addition, this implicates the region 12q21.2-->4q22 as a candidate region for the gene(s) causing CFC syndrome.
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ranking = 0.0068360996334941
keywords = defect
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9/161. A case of the new overgrowth syndrome--macrocephaly with cutis marmorata, haemangioma and syndactyly.

    Moore et al. [(1997) J Med Genet 70:67-73] and Clayton-Smith et al. [(1997) Clin Dysmorphol 6:291-302] have recently described a new overgrowth syndrome with macrocephaly, cutis marmorata, haemangiomas and digit syndactyly. Other features have included body asymmetry, hydrocephalus requiring shunting and developmental delay. All 22 cases reported are sporadic. We report a further case of this rare syndrome.
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ranking = 1.0352419310185
keywords = cutis
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10/161. An autopsy case of Adams-Oliver syndrome.

    We report an autopsy case of a male fetus with Adams-Oliver syndrome. His mother was a healthy, 31-year-old woman and her family and past histories were unremarkable. Therapeutic termination was done at 28( 6) weeks gestational age due to oligohydramnios detected by antenatal ultrasonography. Chromosomal study revealed normal karyotype. On autopsy, characteristic transverse terminal defect of four extremities was found. Both feet were short and broad. All toes were rudimentary with no nails and fingers were irregularly short. On infantogram, all toe-bones were stubby and rudimentary. The middle and terminal phalanges of 2nd, 3rd & 5th fingers and the terminal phalange of 4th finger on the right hand were absent. The middle and terminal phalanges of 2nd & 5th fingers and terminal phalange of 3rd finger were defected on the left hand. His abnormalities were consistent with features of Adams-Oliver syndrome, which has not been reported in korea.
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ranking = 0.013672199266988
keywords = defect
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