Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0851184 (thinning)
 11,252 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Raynaud's phenomenon, uncommon in childhood, often heralds connective tissue disorder. Since microvascular abnormalities can be detected at an early stage of the connective tissue disease, especially in scleroderma, a specific diagnosis can be made in patients presenting with Raynaud's phenomenon alone or Raynaud's phenomenon associated with symptoms suggestive of connective tissue disease. Raynaud's phenomenon was studied in 11 consecutive children, 10 girls and 1 boy, ages 6 to 15. One child had a definite diagnosis of cutaneous polyarteritis nodosa. In 6 others connective tissue disease was suspected: 4 had arthritis, 2 has telangiectasia, leg ulcers and antinuclear antibodies. Of the remaining 4, one had hemiplegia and 3 Raynaud's phenomenon only. Oscillometry of the radial artery was reduced in 7 of 9. Decreased capillary resistance was found in 2 of 6, while abrupt thinning in conjunctival vessels was seen in 3 of 7. On nailfold capillaroscopy, reduced vascularity was noted in 5 of 11, dilated capillaries in 4 of 11, tortuousity in 2 of 11, capillary thinning in 1 of 11, capillary spasm in 1 of 11 and normal pattern in 3 of 11. Two patients presenting with Raynaud's phenomenon were found to have "scleroderma-like pattern" on nailfold capillaroscopy. One of them died 2 years later of cardiopulmonary sclerosis, and another developed esophageal stricture and Barrett's esophagus. Neither has sclerodermatous skin. In childhood Raynaud's phenomenon, nailfold capillaroscopy is a non-invasive examination enabling early diagnosis of "systemic scleroderma sine scleroderma".
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PMID:Raynaud's features in childhood. Clinical, immunological and capillaroscopic study. 149 54

New flow-through perforator flaps with a large, short vascular pedicle are proposed because of their clinical significance and a high success rate for reconstruction of the lower legs. Of 13 consecutive cases, the authors describe two cases of successful transfer of a new short-pedicle anterolateral or anteromedial thigh flow-through flap for coverage of soft-tissue defects in the legs. This new flap has a thin fatty layer and a small fascial component, and is vascularized with a perforator originating from a short segment of the descending branch of the lateral circumflex femoral system. The advantages of this flap are as follows: flow-through anastomosis ensures a high success rate for free flaps and preserves the recipient arterial flow; there is no need for dissecting throughout the lateral circumflex femoral system as the pedicle vessel; minimal time is required for flap elevation; there is minimal donor-site morbidity; and the flap is obtained from a thin portion of the thigh. Even in obese patients, thinning of the flap with primary defatting is possible, and the donor scar is concealed. This flap is suitable for coverage of defects in legs where a single arterial flow remains. It is also suitable for chronic lower leg ulcers, osteomyelitis, and plantar coverage.
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PMID:Flow-through anterior thigh flaps with a short pedicle for reconstruction of lower leg and foot defects. 1665 93

A 49-year-old man was first seen in our department for the evaluation of scleroderma-like skin changes and a nonhealing ulcer on his leg from years before referral. His medical history was of long duration. His growth was stunted at the age of 12. At 21 years of age, the patient noted graying of the scalp hair, most prominent on his temples, and the process was progressively completed by the age of 23. At the same age, atrophy and thinning of the skin and loss of subcutaneous fat resulted in a tense, shining, and adherent appearance of his skin, most obvious on his face and extremities. Soon after, he developed a high-pitched, hoarse voice. He had undergone bilateral cataract surgery at the age of 30. Around the age of 46, he developed a unilateral nonhealing chronic leg ulcer (Figure 1). He had separated from his wife because of infertility. He was the first offspring of his second-degree healthy relative parents. The other 3 siblings had similar signs and symptoms. Our patient gave the history of premature graying of the hair of his younger brother at the age of 18 and his 2 younger sisters at the age of 12 and 16. His brother had recently received diagnoses of bilateral cataract and diabetes mellitus. All of the siblings had ceased growth from early adolescence. On physical examination, our patient's weight was 48 kg and his height was 150 cm. He had normal intelligence. He was speaking with a high-pitched and childish voice. He had a bird-like appearance with a beak-shaped nose. Mottled and diffuse pigmentation and poikiloderma appearance was conspicuous on his neck (Figure 2). The entire skin was smooth, shiny, and scleroderma-like, and a marked decrease in the subcutaneous fat was noted over the extremities. A deep cutaneous ulcer was evident on his slimmed leg. Digital ulcers were not found, and radial and dorsalis pedis pulses were palpable. Clinodactyly of the toes were conspicuous. His nails were dystrophic and he had used dentures from the age of 20. On examination of the external genitalia, his testes were smaller than normal. In the biopsy taken from the leg ulcer, there were no signs of malignancy. There were no signs ofosteomyelitis on x-ray. Biopsy of the normal skin revealed atrophic epidermis and thick dermis with hyalinization of the collagen fibers and absence of pilosebaceous structures (Figure 3). The patient's scalp hair was thin and sparse and there were few axillary and pubic hairs. His fasting plasma glucose level was normal.
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PMID:Werner syndrome in an Iranian family. 2113 29