1/17. Lethal neonatal Hutchinson-Gilford progeria syndrome.We report on a 35-week gestation female fetus with Hutchinson-Gilford progeria (HGP). This patient, who is the first reported with neonatal HGP in the English literature but is the fourth, counting three previous French cases, supports the existence of a more severe prenatal form of progeria. She died 7 hours after birth and presented with intrauterine growth retardation, premature aging, absence of subcutaneous fat, brachydactyly, absent nipples, hypoplastic external genitalia, and abnormal ear lobes. The child's combination of clinical and skeletal manifestations differentiates this form of HGP from other progeroid syndromes with neonatal presentation. We also report previously undescribed autopsy findings including premature loss of hair follicles, premature regression of the renal nephrogenic layer, and premature closure of the growth plates in the distal phalanges that may be related to the aging processes in this condition. We could not find any histological data to support acro-osteolysis, which is the radiographic sign of brachydactyly. The terminal phalanges in HGP seem to be underdeveloped rather than osteolytic.- - - - - - - - - - ranking = 1keywords = process (Clic here for more details about this article) |
2/17. Lumbosacral congenital dermal sinus presenting in a 52-year-old man. Case report.Spinal congenital dermal sinus is a rare entity which results from failure of the neuroectoderm to separate from cutaneous ectoderm during the process of neurulation. This epithelium-lined tract forms a potential communication between the skin surface in the midline along the spine and the deeper tissues. We describe a case of an asymptomatic lumbosacral congenital dermal sinus in a 52-year-old man. Microsurgical excision of dermal tract was performed with no postoperative complications and with a satisfactory cosmetic result. The authors stress the importance of an early neuroradiological and neurosurgical management of the lesion. The embryogenesis of this pathological condition and the possible complications are also discussed.- - - - - - - - - - ranking = 1keywords = process (Clic here for more details about this article) |
3/17. Restrictive dermopathy: report of a case and review of the literature.BACKGROUND: Restrictive dermopathy is a rare autosomal recessive skin disorder that is fatal in the neonatal period. Clinical and pathologic findings are distinctive and allow for a specific diagnosis in most cases. methods: We present a case of an affected infant and a review of the previously reported cases in the literature. RESULTS: The infant had thick shiny skin with reduced compliance and multiple spontaneous linear splits. Additional findings included an abnormal facies with a distinctive small, round and open mouth, low set ears, small nose, widely spaced sutures, flexion contractures of the extremities, and poorly expanded lungs. The infant expired 65 h after birth. Histologic findings of the skin at autopsy included a relatively unremarkable epidermis, a flat dermal-epidermal junction (absent rete ridges), an overall thinned dermis with hypoplastic appendage structures, a dense fibrotic reticular dermis with collagen parallel to the epidermis, a sharp subcutaneous margin, and an abnormally thick layer of subcutaneous adipose tissue. Electron microscopic findings included dense dermal patches of collagen and fibroblasts with abundant endoplasmic reticulum and unusually small tonofilaments. review of previously reported cases reveals strikingly consistent findings. CONCLUSIONS: This rare condition illustrates that abnormal cutaneous development may produce fetal hypokinesia, leading to profound effects on intrauterine growth and development. The autosomal recessive pattern of inheritance and morphologic changes of the skin and skeletal system in this disorder suggest that a structural protein or enzyme defect, perhaps of collagen metabolism, may underlie the pathogenesis.- - - - - - - - - - ranking = 965.68494126023keywords = ridge (Clic here for more details about this article) |
4/17. costello syndrome and Chiari I malformation: apropos of a case with a review of the literature regarding a potential association.We report a child with costello syndrome and Chiari I malformation. The medical literature has several case reports of findings peculiar for each of these two clinical entities that, when investigated, can actually be found in both processes. Recent reports have shown additional medical coincidences for the Chiari I malformation, which, unlike the Chiari II malformation, was once thought not to have many additional associations. We propose that both costello syndrome and other clinical entities that have potential mesodermal or ectodermal deficiencies (eg, Chiari I malformation and phakomatoses, respectively) could have common dysgeneses. Further case reports from other institutions regarding costello syndrome and Chiari I malformation are now necessary to confirm our findings. Our hope is that these data will potentially add to our knowledge of the etiology of both costello syndrome and Chiari I malformation and potentially aid in the definition of a genetic locus for both entities.- - - - - - - - - - ranking = 1keywords = process (Clic here for more details about this article) |
5/17. The De Barsy syndrome.BACKGROUND: In 1968, De Barsy reported on a girl exhibiting an aged aspect, 'dwarfism, oligophrenia, and degeneration of the elastic tissue in cornea and skin'. The disorder was recognized as a subgroup of cutis laxa syndrome and termed De Barsy-Moens-Dierckx syndrome. The pathogenesis of the disorder is unknown. methods: To improve the comprehension of the pathogenetic mechanisms involved in the De Barsy syndrome, we performed an ultrastructural, morphometric, immunocytochemical study on a skin biopsy of a boy with the De Barsy phenotype, who has been clinically followed for 12 years from birth. Moreover, the lysyl oxidase activity was measured on skin fibroblasts cultured in vitro. RESULTS: light and electron microscopy, morphometry, and immunocytochemical observations showed a significant reduction of the elastic fibers in the papillary and in the reticular dermis of patient compared to an age-matched control (p < 0.05). By contrast, the collagen structure, content, and the distribution were normal, as well as lysyl oxidase activity in the medium of in vitro fibroblasts (12,323 DPM/10(6) cells). The immunoreaction for antibodies recognizing fibrillin-1, neutrophilic elastase, and tumor necrosis factor-alpha was stronger, whereas that for antibodies against transforming growth factor-beta was less pronounced in the dermis of the De Barsy boy compared to control. CONCLUSIONS: Clinical, phenotypic, and structural data were consistent with the diagnosis of De Barsy syndrome. This is the first case described in italy. Clinical and structural data confirm that the elastic component is mostly affected in this disorder. Moreover, ultrastructural and immunochemical findings suggest that both elastic fiber degradative and very likely synthetic processes are involved.- - - - - - - - - - ranking = 1keywords = process (Clic here for more details about this article) |
6/17. Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: confirmation of a new syndrome.We report two related Thai children having a new syndrome of microcephalic osteodysplastic primordial dwarfism (MOPD). The findings which classify them as having MOPD include IUGR, microcephaly, prominent nose and nasal bridge, small pinnae, short stature, cone-shaped and ivory-epiphyses, delayed bone age, slender long bones, and abnormal pelvis. The findings that distinguish them as having newly recognized syndrome consist of severe microdontia, malformed teeth, single-rooted or rootless teeth, severely hypoplastic alveolar bone, cafe au lait spots, acanthosis nigricans, and areas of hypo- and hyperpigmented skin. The reported patients appear to have the same condition as the family reported by Kantaputra [2002: Am J Med Genet 111:420-428]. This article contains supplementary material, which may be viewed at the American Journal of Medical genetics website at http://www.interscience.wiley.com/jpages/0148-7299/suppmat/index.html.- - - - - - - - - - ranking = 965.68494126023keywords = ridge (Clic here for more details about this article) |
7/17. costello syndrome showing moyamoya-like vasculopathy.This report describes a patient with costello syndrome associated with moyamoya-like vasculopathy. His clinical findings were sparse, thin, and light-colored hair, bilateral ptosis, low-set ears, depressed nasal bridge, bulbous nose, short neck, loose pigmented skin with deep palmar and plantar creases, bilateral cryptorchidism, and delays in growth and development. brain magnetic resonance imaging and cerebral angiography revealed moyamoya-like vasculopathy. A skin biopsy from the extensor surface of the right thigh revealed shortening and rupture of elastic fibers. Electron microscopy indicated reduced depositions of elastin. Formation of a stable elastic fiber system may be impaired in patients with costello syndrome, and brain magnetic resonance imaging and magnetic resonance angiography would be recommended for these patients.- - - - - - - - - - ranking = 965.68494126023keywords = ridge (Clic here for more details about this article) |
8/17. Cardiofaciocutaneous syndrome (CFC) with congenital peripheral neuropathy and nonorganic malnutrition: an autopsy study.Many phenotypic manifestations have been reported in cardiofaciocutaneous (CFC) syndrome, but none, to date, are pathognomonic or obligatory. Previous histopathological studies reported findings in skin and hair; no autopsy studies have been published. We report the clinical and autopsy findings of a 7-year-old boy with severe CFC syndrome and malnutrition of psychosocial origin. Manifestations of CFC, reported previously, included macrocephaly and macrosomia at birth; short stature; hypotonia; global developmental delays; dry, sparse thin curly hair; sparse eyebrows and eyelashes; dilated cerebral ventricles; high cranial vault; bitemporal constriction; supraorbital ridge hypoplasia; hypertelorism; ptosis; exophthalmos; depressed nasal bridge; anteverted nostrils; low-set, posteriorly-rotated, large, thick ears; decayed, dysplastic teeth; strabismus; hyperelastic skin; wrinkled palms; keratosis pilaris atrophicans faciei; ulerythema ophryogenes; hyperkeratosis; gastroesophageal reflux; and tracheobronchomalacia. Additional findings, not previously reported, include islet cell hyperplasia, lymphoid depletion, thymic atrophy and congenital hypertrophy of peripheral nerves with onion bulb formations. Although the islet cell hyperplasia, lymphoid depletion, and thymic atrophy are nonspecific findings that may be associated with either CFC or malnutrition, the onion bulb hypertrophy is specific for a demyelinating-remyelinating neuropathy. These findings implicate congenital peripheral neuropathy in the pathogenesis of the developmental delays, feeding difficulties, respiratory difficulties, ptosis and short stature in this case. Additional studies of other cases of CFC are needed.- - - - - - - - - - ranking = 1931.3698825205keywords = ridge (Clic here for more details about this article) |
9/17. Hypohidrotic ectodermal dysplasia: a genealogic, stereomicroscope, and scanning electron microscope study.This is a report of three patients with hypohidrotic ectodermal dysplasia, or Christ-Siemens-Touraine syndrome, their genealogic backgrounds and the stereomicroscope and scanning electron microscopic appearances of the hair, the skin of their fingertips and palms as well as skin studies of members of their families. The skin morphology was recorded by means of silicone monomer rubber impressions and epoxy resin dyes. In two of the patients the disease was acquired by X-linked inheritance, while in the third, a boy, it appeared to follow an autosomal dominant pattern. Defects of the skin of the fingertips and palms of the propositi and members of the families included abnormalities of the morphology and pattern of the epidermal ridges, reduction of sweat pores varying from 13 to 87% of normal, and changed anatomy of the openings of the sweat glands. The openings were shallow and with less whorling compared to the normal, funnel-shaped sweat pores. Among the sweat pores, micropores, or openings with an average diameter of 5.3 micrometers, were observed. One of the propositi and the affected father of another had orifices on their fingertips resembling hair sheaths. Two propositi and the affected father of one exhibited grooving of the hair. The findings confirm the necessity for genealogic investigations in patients with or suspected of having the disease in order to advise parents or prospective parents. They also illustrate the usefulness of stereomicroscopy and scanning electron microscopy in observing skin and hair abnormalities.- - - - - - - - - - ranking = 965.68494126023keywords = ridge (Clic here for more details about this article) |
10/17. Richner-Hanhart's syndrome: ultrastructural abnormalities of epidermal keratinization indicating a causal relationship to high intracellular tyrosine levels.Richner-Hanhart's syndrome (corneal dystrophies, palmoplantar keratoses, and mental retardation) is caused by high levels of L-tyrosine in the blood, probably due to a defect of soluble tyrosine aminotransferase. Biopsies of skin lesions of 3 cases revealed peculiar ultrastructural changes that were not found in controls and have not been recorded before. Thickening of the granular layer and increased synthesis of tonofibrils and keratohyalin occurred in all cases. In the ridged palmar or plantar skin large numbers of microtubules and unusually tight packing of tonofibrillar masses were regularly demonstrable, the latter containing tubular channels or inclusions of microtubules. It is assumed that increased cohesion and tight packing of tonofilaments could prevent normal spreading of keratohyalin and result in its globular appearance. No crystal formation was observed in epidermal keratinocytes nor was there lysosomal damage. A biochemical model to correlate these ultrastructural findings to known biochemical and clinical features is proposed. It is suggested that excessive amounts of intracellular tyrosine enhance cross-links between aggregated tonofilaments and modulate the number and stability of microtubules.- - - - - - - - - - ranking = 965.68494126023keywords = ridge (Clic here for more details about this article) |
| | Next -> |