1/4. Restrictive dermopathy associated with transposition of the great arteries and microcolon: a rare neonatal entity with new symptoms.BACKGROUND: Restrictive dermopathy is a very rare autosomal recessive skin disorder. The typical pathologic findings are striking: microstomia, micrognathia, thin but very tight translucent skin that tears spontaneously, and arthrogryposis multiplex. The mechanisms behind this disease are unknown. OBSERVATIONS: We describe for the first time a newborn girl with restrictive dermopathy, transposition of the great vessels, and microcolon. She had thin shiny skin with nearly no compliance indicating restrictive dermopathy. Additional dysmorphic findings included enlarged fontanelle, hypertelorism, absent eyelashes, small pinched nose, microstomia, micrognathia, dysplastic ears, pterygium colli, dyplastic fingers and toes with upper- and partial lower-limb flexion contractures, dysplastic genitalia, and muscular hypotonia. She also had left transposition of the great artery with small atrial septal defect, bilateral hypoplasia of the first rib, and congenital stenosis of the small bowel with microcolon. CONCLUSIONS: The pathogonomic diagnostic features remain reduced dermal thickness and nearly complete absence of elastic fibers in the dermis. In mice, a defective fatty acid transport protein 4 gene (Fatp4) leads to clear signs of restrictive dermopathy by influencing the arrangement of the lipids in the epidermis. Whether the left transposition of the great artery is associated with restrictive dermopathy or represents an additional malformation of multifactorial, polygenetic, or monogenetic cause remains open.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
2/4. Vascular abnormalities in a fetus with multiple pterygia.We describe a 16-week fetus with a lethal multiple pterygium syndrome and hydrops. No bony abnormalities were noted on radiographic or anatomical examination. A prominent meshwork of dilated, thin-walled vessels was present in the subcutis over the entire body. This abnormal vascularity may have caused pterygium formation and death of the fetus.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
3/4. Human tails and pseudotails.A case of a tail in a 2-week-old infant is reported, and findings from a review of 33 previously reported cases of true tails and pseudotails are summarized. The true, or persistent, vestigial tail of humans arises from the most distal remnant of the embryonic tail. It contains adipose and connective tissue, central bundles of striated muscle, blood vessels, and nerves and is covered by skin. Bone, cartilage, notochord, and spinal cord are lacking. The true tail arises by retention of structures found normally in fetal development. It may be as long as 13 cm, can move and contract, and occurs twice as often in males as in females. A true tail is easily removed surgically, without residual effects. It is rarely familial. Pseudotails are varied lesions having in common a lumbosacral protrusion and a superficial resemblance to persistent vestigial tails. The most frequent cause of a pseudotail in a series of ten cases obtained from the literature was an anomalous prolongation of the coccygeal vertebrae. Additional lesions included two lipomas, and one each of teratoma, chondromegaly , glioma, and a thin, elongated parasitic fetus.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
4/4. incontinentia pigmenti (Bloch-Sulzberger-syndrome): case report and differential diagnosisto related dermato-ocular syndromes.BACKGROUND: incontinentia pigmenti (IP; Bloch-Sulzberger syndrome) is an inherited disorder of skin pigmentation that is associated with skin (100%), dental (90%), skeletal (40%), central nervous (40%) and ocular (35%) abnormalities. The pathogenesis is not yet known. The disease is usually seen in females, as it is an X-linked dominantly inherited disease which is lethal in males. PATIENT PRESENTATION: We present a 9-year-old girl with the classical general and ocular signs of IP. She presented in early childhood with inflammatory vesicular skin changes which changed into pigmented skin alterations especially on the trunk. Ocular findings were microphthalmia and retrolental mass formation in one eye and retinal pigmentary changes in the other. In our patient, the spontaneous mutation may have been caused by the family's close neighbourhood to Semipalatinsk, Kasachstan, where regular nuclear tests took place very shortly before the pregnancy with our patient began. DISCUSSION: Ocular involvement is described in about a third of persons affected with IP. A nearly consistent and pathognomonic finding is a pigment retinopathy (mottled diffuse hypopigmentations). A further consistent finding are abnormalities of peripheral retinal vessels with areas of non-perfusion in the outer retina. The retinal pigment epitheliopathy and the abnormalities of retinal vessels are thought to be the underlying pathognomonic findings, with all other ocular signs being secondary (cataract, leucocoria, optic atrophy, strabismus, nystagmus and microphthalmus). Exudative retinal detachment occurs only in a minority, usually in very early childhood, when the skin lesions are exudative as well. IP patients should, however, be clinically observed regularly because of their retinal pigmentary changes.- - - - - - - - - - ranking = 2keywords = vessel (Clic here for more details about this article) |