1/20. Satoyoshi syndrome.Satoyoshi syndrome is a very rare disorder of unknown etiology, characterized by progressive, intermittent, painful muscle spasms, alopecia universalis, diarrhea or unusual malabsorption, various endocrine disorders, and secondary skeletal abnormalities. This report describes a 9-year-old Thai girl who developed alopecia universalis when she was 6 years old. At age 7 years, she began to have recurrent, painful muscle spasms. The spasms progressed in time, producing recurrent patella dislocation. The laboratory investigations and radiologic study were compatible with Satoyoshi syndrome. She was treated with oral corticosteroid therapy, with marked improvement of her muscle spasms and alopecia. She underwent corrective surgery for deformities of both knees with a normal healing process.- - - - - - - - - - ranking = 1keywords = muscle spasm, spasm, muscle (Clic here for more details about this article) |
2/20. A unilateral presentation of 'Satoyoshi syndrome'.Satoyoshi syndrome is a rare, slowly progressive disorder of unknown etiology with a poor long-term prognosis. The syndrome consists of the following clinical features: (1) painful, intermittent muscle spasms; (2) alopecia; (3) diarrhea; and (4) skeletal abnormalities in cases of juvenile onset. The age of onset is typically less than 20 years of age, although three adult onset cases had been reported. There had been no case report of Satoyoshi syndrome with strict unilateral presentation. We present a 25-year-old man with progressive unilateral hair loss and muscle spasms. Although previous literature had postulated malabsorption and autoimmune mechanism as pathogenic for Satoyoshi syndrome, the presence of a strictly unilateral presentation argues against those hypotheses. However, these hypotheses should still be considered, as our patient did not fit a typical Satoyoshi syndrome. Therefore, more research is needed to understand the pathophysiology and develop an effective treatment to prevent the progression of the disease.- - - - - - - - - - ranking = 0.66616162439488keywords = muscle spasm, spasm, muscle (Clic here for more details about this article) |
3/20. A case of Satoyoshi syndrome: a multisystem disorder.A 14-year-old boy with Satoyoshi syndrome is reported. Less than 50 patients with Satoyoshi syndrome have been reported in the world literature. This patient had alopecia, muscle spasms, and skeletal abnormalities, which are three of the most common clinical features of Satoyoshi syndrome. Despite extensive laboratory evaluation, an alternate explanation was not documented for the cluster of clinical findings in this patient. Immune dysregulation is believed to be an underlying mechanism for the development of Satoyoshi syndrome. In contrast to some reports, this patient failed to respond to intravenous immunoglobulin therapy. However, he responded dramatically to steroids.- - - - - - - - - - ranking = 0.33308081219744keywords = muscle spasm, spasm, muscle (Clic here for more details about this article) |
4/20. Satoyoshi syndrome.Satoyoshi syndrome (Komuragaeri disease) is a rare disorder of presumed autoimmune etiology, characterized by painful muscle spasms, alopecia, diarrhea, endocrinopathy with amenorrhoea and secondary skeletal abnormalities. Most of the previous reports are of the Japanese people. We report the first case from india.- - - - - - - - - - ranking = 0.33308081219744keywords = muscle spasm, spasm, muscle (Clic here for more details about this article) |
5/20. Unexpected death of a 12 year old boy with monosomy 1p36.monosomy 1p36 may result in a clinically recognizable chromosomal microdeletion syndrome. We report the unexpected death of a 12 year old boy with mildly dysmorphic facial features, short stature at 138 cm (3rd centile), moderate mental retardation and a history of seizures, obesity, transient muscle weakness of the right arm and leg and episodes of transient atonic hemiparesis of the right side of the body. Despite the relatively few congenital anomalies and normal karyotype, the 1p36 deletion was suspected on clinical grounds and was demonstrated by fluorescent in situ hybridisation (FISH). Two months after diagnosis and following a short history of a mild upper airway infection, high fever and severe diarrhea, the patient had a massive circulatory shock and asystolia, resulting in deep coma, brain edema, apallic syndrome and death. To our knowledge there has been no previous report of episodes of transient unilateral muscle weakness and atonic hemiparesis, circulatory shock and sudden death associated with monosomy 1p36.- - - - - - - - - - ranking = 6.8341335545624E-5keywords = muscle (Clic here for more details about this article) |
6/20. nevus psiloliparus: report of two nonsyndromic cases.A diagnosis of nevus psiloliparus was made both clinically and histopathologically in two otherwise healthy girls, one being 4 years and the other one being 1 year old. A congenital hairless patch with a round or oblong shape and a soft surface was noted on the scalp. In one case the lesion was yellowish and flat, whereas in the other case it was skin colored and somewhat elevated. In both cases, histopathological examination showed the absence of mature hair follicles and the presence of undeveloped follicular structures as well as orphaned arrector pili muscles in the dermis. As a new histopathological feature of this type of nevus, we found arrested anlagen of hair bulbs in both cases. The fatty tissue was abundant and also involved, in the form of aberrant lobules, the lower portion of the dermis. Clinical examination did not show any associated extracutaneous abnormality, and during a follow-up period of 2 years in either case, respectively, the children developed without any complication. Although neurological abnormalities could not be excluded by imaging techniques, such extracutaneous involvement is highly unlikely because the nevi psilolipari were of rather limited size. When clinicians and dermatohistopathologists have become familiar with this new entity, they will most likely recognize it as a nonsyndromic skin disorder more often than as a cutaneous sign of encephalocraniocutaneous lipomatosis.- - - - - - - - - - ranking = 3.4170667772812E-5keywords = muscle (Clic here for more details about this article) |
7/20. Madarosis and facial alopecia presumed secondary to botulinum a toxin injections.PURPOSE.: Botulinum neurotoxins are considered relatively safe therapy for treatment of inappropriate muscle spasms. As seen in this report, undesirable consequences may result. methods.: The author conducted a clinical interview and examination of the patient. RESULTS.: Unilateral left-sided madarosis and facial alopecia were observed in a patient undergoing botulinum A toxin injections for the treatment of left oromandibular dystonia. The patient had started treatment 18 months previously. He received injections every 3 months in the left masseter and left temporalis muscles. He first noted loss of his left sideburn 8 months into treatment. After 10 months of treatment, he noted that he no longer needed to shave on the left side of his face. Eighteen months after receiving his first botulinum toxin injection, madarosis of the temporal aspect of the left lower lid was observed. CONCLUSIONS.: This is the first case report documenting an idiosyncratic unilateral madarosis and facial alopecia as adverse side effects presumed secondary to botulinum A toxin injections.- - - - - - - - - - ranking = 0.33311498286521keywords = muscle spasm, spasm, muscle (Clic here for more details about this article) |
8/20. Structural fat grafting: more than a permanent filler.Grafted fat has many attributes of an ideal filler, but the results, like those of any procedure, are technique dependent. Fat grafting remains shrouded in the stigma of variable results experienced by most plastic surgeons when they first graft fat. However, many who originally reported failure eventually report success after altering their methods of harvesting, refinement, and placement. Many surgeons have refined their techniques to obtain long-term survival and volume replacement with grafted fat. They have observed that transplanted fat not only adjusts facial and body proportion but also improves surrounding tissues into which the fat is placed. They have noted not only the improvement in the quality of aging skin and scars but also a remarkable improvement in conditions such as radiation damage, chronic ulceration, breast capsular contracture, and damaged vocal cords. The mechanism of fat graft survival is not clear, and the role of adipose-derived stem cells and preadipocytes in fat survival remains to be determined. Early research has indicated the possible involvement of more undifferentiated cells in some of the observed effects of fat grafting on surrounding tissues. Of particular interest is the research that has pointed to the use of stem cells to repair and even to become bone, cartilage, muscle, blood vessels, nerves, and skin. Further studies are essential to understand grafted fat tissue.- - - - - - - - - - ranking = 3.4170667772812E-5keywords = muscle (Clic here for more details about this article) |
9/20. A case of progressive hemifacial atrophy with uveitis and retinal vasculitis.Parry Romberg syndrome is a rare disorder characterised by progressive hemifacial atrophy that is usually unilateral, involving the skin, subcutaneous tissue, and subsequently the muscle, cartilage and bone. Previous cases with various ocular manifestations have been reported. A case of Parry Romberg syndrome with retinal vasculitis is reported.- - - - - - - - - - ranking = 3.4170667772812E-5keywords = muscle (Clic here for more details about this article) |
10/20. candidiasis-endocrinopathy syndrome with progressive myopathy.A women suffering from the candidiasis-endocrinopathy syndrome, developed severe myopathy in her fourth decade and died from it at the age of 37 years. Associated conditions were hypoparathyroidism, vitiligo, chronic mucocutaneous candidiasis, short stature, intellectual disability, ovarian failure and alopecia totalis. Muscle biopsy findings were non-specific with focal atrophy of type 2 fibres. serum immunoglobulin levels were normal. The only demonstrable abnormalities of her immune system were impaired T-cell function and antibody production by B-cells (detectable to smooth muscle, mitochondria and gastric parietal cells). The T-cell abnormality may have been part of a more generalized cell defect, resulting from an unidentified genetic abnormality, whilst the circulating antibodies could have been a response to tissue damage. There was no convincing evidence of primary autoimmune damage.- - - - - - - - - - ranking = 3.4170667772812E-5keywords = muscle (Clic here for more details about this article) |
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