Presentation
We present this case to emphasize the importance of recognizing Satoyoshi syndrome, which could go unnoticed if not suspected. [unboundmedicine.com]
ORPHA:3130 Synonym(s): Komuragaeri disease Prevalence: Inheritance: Not applicable Age of onset: Childhood, Adolescent, Adult ICD-10: - OMIM: 600705 UMLS: C1833454 MeSH: C536616 GARD: 160 MedDRA: 10070579 The documents contained in this web site are presented [orpha.net]
Results Epidemiological data The mean age of presentation of SS was 12.8 years (range, from a few months to 52 years), and the mean age of presentation of digestive symptoms was slightly higher (15.08 years, range from a few months to 53 years). [link.springer.com]
Antinuclear antibodies are present in 60% of patients. The syndrome primarily affects girls and young women. Trichoscopy shows regularly distributed yellow dots, indistinguishable from typical alopecia areata. [semanticscholar.org]
A Case of Satoyoshi Syndrome Presented with Progressive Muscular Spasm and Alopecia Kyung Ran Son (Son KR) 1, Jin Hwa Kook (Kook JH) 1, Byung Ju Kim (Kim BJ) 1, Sung Jin Kim (Kim SJ) 2, Jae Sook Ma (Ma JS) 1 1 Department of Pediatrics, Chonnam National [kjp.or.kr]
Entire Body System
- Short Stature
B: Proportionate short stature and hypertrophicmuscles of lower limbs are noted. C: X-ray hand and feet. Observed, shortness of all metacarpals (more severe third and fourth), metatarsals, andphalanges (principally, in the first telephalanges). [documents.tips]
[…] undergrowth Severe short stature Anteverted nares Disproportionate short stature Scoliosis Abnormal facial shape Micrognathia Hearing impairment Melanocytic nevus Clinodactyly of the 5th finger Downslanted palpebral fissures Proportionate short stature [mendelian.co]
stature Decreased body height Small stature [ more ] 0004322 Sparse or absent eyelashes 0200102 Tapered finger Tapered fingertips Tapering fingers [ more ] 0001182 5%-29% of people have these symptoms Brachydactyly Short fingers or toes 0001156 Short [rarediseases.info.nih.gov]
- Candidiasis
[…] syndromes: Ulshen [1985]: e.g., disaccharidase deficiency, celiac disease F Miscellaneous Hennekam syndrome [Hennekam et al., 19901 REFERENCES Ahonen P, Myllarniemi S, Sipila I, Perheentupa J (1990): Clinical variation of autoimmune polyendocrinopathy-candidiasis-ectoder [dokumen.tips]
Skin
- Dry, Scaly Skin
Slomin AE, Sadick N, Pugliese M, Meyers-Seifer CH (1992): Clinical response of alopecia, trichorrhexis nodosa, and dry, scaly skin to zinc supplementation. J Pediatr 121:890-895. Spencer LV, Callen J P (1987): Hair loss in systemic disease. [dokumen.tips]
- Cutaneous Manifestation
Laman SD, Provost TT (1994): Cutaneous manifestations of lupus ery- thematosus. Rheum Dis Clin North Am 20:195-212. McCarthy JT, Kumar R (1990): Renal osteodystrophy. Endocrinol Metab Clin North Am 19:65-93. [dokumen.tips]
Musculoskeletal
- Genu Valgum
Skeletal survey revealed multiple defects: ( i ) narrowing of ends of clavicle and terminal phalanges suggestive of acroosteolysis ( ii ) irregular sclerotic distal femoral metaphyses ( Fig. 2), ( iii ) left sided genu varus, right sided genu valgum; [indianpediatrics.net]
valgum Knock knees 0002857 Malabsorption Intestinal malabsorption 0002024 Mildly elevated creatine kinase 0008180 Muscle spasm 0003394 Osteolytic defects of the phalanges of the hand Breakdown of small bones of fingers 0009771 Pes planus Flat feet Flat [rarediseases.info.nih.gov]
- Myopathy
Malattie con elevata p Page 171 and 172: Patologia NP NP IT % NB Casi Varian Page 173 and 174: micromelic retinitis pigmentosa and Page 175 and 176: Myopathy with lactic acidosis and C Page 177 and 178: hypotonia Acadian variety Usher syn Page 179 and [yumpu.com]
Hypothyroid myopathy [Warlow, 19911 3. Hypoparathyroidism 4. Addisons disease [Warlow, 19911 5. [dokumen.tips]
- Arthralgia
Nephritis Inflammatory abnormality of the eye Epidermal acanthosis Choanal atresia Hypopigmentation of the skin Membranous nephropathy Visual impairment Short palm Muscular hypotonia of the trunk Dislocated radial head Prominent occiput Broad hallux Arthralgia [mendelian.co]
Additionally, celiac disease can be associated with other conditions described in SS patients, such as autoimmune thyroid disease or myasthenia gravis [40]; even the rare manifestations of celiac disease, such as infertility, arthralgia, arthropathy or [link.springer.com]
Neurologic
- Myoclonus
During an attack-free period, non-stimulus-sensitive myoclonus can occur in the arms, legs and neck. Diarrhea occurs in the first 2–3 years with intolerance to carbohydrate and high glucose diets. [en.wikipedia.org]
Palatal myoclonus induced by extirpation of a cerebellar ... ; A 45-year-old woman developed a rare case of palatal myoclonus with no other neurological signs after undergoing extirpation of a small cerebellar low-grade astrocytoma that was located in [wqiichny.tk]
During an attack-free period, non-stimulus-sensitive myoclonus can occur in the arms, legs and neck. Diarrhea occurs in the first 2-3 years with intolerance to carbohydrate and high glucose diets. [neurologyindia.com]
[…] defect-photosensitivity-intellectual disability syndrome Kinky or curly hair, dolichocephaly, enamel hypoplasia, increased dental caries, radial dense bones, and brittle nails - See Tricho-dento-osseous syndrome 1 Kinsbourne syndrome - See Opsoclonus-myoclonus [rarediseases.info.nih.gov]
Urogenital
- Uremia
Abnormal serum electrolytes [Warlow, 19911: e.g., hyponatremia, hypocalcemia (tetany), hypomagnesemia, uremia 2. Hypothyroid myopathy [Warlow, 19911 3. Hypoparathyroidism 4. Addisons disease [Warlow, 19911 5. [dokumen.tips]
- Vaginal Bleeding
Muscle spasms improved after 4 weeks and totally disappeared by the 8th week of treatment; hair growth was noticed after 6 weeks of treatment, and 2 episodes of light vaginal bleeding were observed during the first 3 months of treatment. [dokumen.tips]
Workup
Serum
- Hyponatremia
Abnormal serum electrolytes [Warlow, 19911: e.g., hyponatremia, hypocalcemia (tetany), hypomagnesemia, uremia 2. Hypothyroid myopathy [Warlow, 19911 3. Hypoparathyroidism 4. Addisons disease [Warlow, 19911 5. [dokumen.tips]
Microbiology
- Candida
Candida intradermal skin test was nonreactive. Lymphocyte subpopulation study showed decreased natural killer cells (CD56) and ele- vated CD4/CD8 ratio. [dokumen.tips]
Treatment
In 5 patients as initial treatment [5, 37, 60, 67] and in two patients after other treatments [50, 62]. [ncbi.nlm.nih.gov]
Following treatment, amplitudes declined up to five times compared with the pre-treatment. As Drost et al. [docslide.net]
Treatment and outcome Data regarding treatment were present in 28 of the cases with digestive symptoms [2, 4, 5, 7, 8, 11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28, 31, 32]. [link.springer.com]
[…] may be life-limiting due to worsening symptoms if treatment is not successful. [rarediseases.info.nih.gov]
Prognosis
Prognosis and Treatment of Myasthenia Gravis. This drug is indicated for the treatment of myasthenia gravis. MYTELASE should also not be administered to patients with a known hypersensitivity to ambenonium. [hardshipstockbrokers.tk]
Includes symptoms, causes, medications, diagnosis, treatments, prevention, and prognosis information. Aminoglykosidy, ciprofloxacin, imipen, makrolidy. Most myasthenics, with the help of either drugs and. Možn podat ATB a chemoterapeutika. [focusesawake.gq]
Prognosis Since the introduction of corticosteroids in the treatment, the prognosis of patients with Satoyoshi syndrome has improved. We found seven patients who died due to SS in the literature search [1, 52, 68]. [ncbi.nlm.nih.gov]
Wealso suggest that two subtypes of the disorder should be distinguished, the ANA-positive Satoyoshi syndromewith generally good response to systemic glucocorticosteroid therapy and the ANA-negative Satoyoshi with lessfavorable prognosis. [docslide.com.br]
Treatments used, evolution and prognosis of digestive symptoms, and data regarding analytical or histological alterations, if available. Morbimortality and sequelae. [link.springer.com]
Etiology
Abstract Satoyoshi syndrome is a rare disorder of unknown etiology characterized by progressive, painful intermittent muscle spasms, severe skeletal abnormalities mimicking a skeletal dysplasia, malabsorption, alopecia, and amenorrhea. [link.springer.com]
Satoyoshi syndrome - TSpace ; Satoyoshi syndrome (Komuragaeri disease) is a rare disor- der of presumed autoimmune etiology, characterized by painful muscle spasms, alopecia, diarrhea, ... [wqiichny.tk]
The etiology of this disease has not been revealed. [ncbi.nlm.nih.gov]
It is a rare multisystem disorder of presumed autoimmune etiology that is characterized by alopecia, intermittent painful muscle spasms, diarrhea, and antinuclear antibody positivity. [unboundmedicine.com]
Epidemiology
Epidemiology There is a recognised female predilection 1. Klip... [wqiichny.tk]
Data extraction The following data were extracted from each of the cases: Clinical and epidemiological data: age of onset of any of the symptoms pertaining to the syndrome, age of onset of digestive symptoms, sex and country of origin. [link.springer.com]
Flow chart illustrating case selection strategy [13–31] Data extraction The following data were extracted from each of the selected cases: Clinical and epidemiological characteristics: age, age at onset of symptoms and delay of diagnosis, sex, country [ncbi.nlm.nih.gov]
Pathophysiology
However, the pathophysiological basis of SS related MS remains unknown. MS can interfere significantly and even be disabling when severe. [docslide.net]
VIEW PDF - Miller Laboratory ; May 18, 2005 ... to better define the pathophysiology of muscle cramps and to find more effective .... herited syndromes; as a side-effect of medications; and in some patients, ...... tanabe A, et al. [wqiichny.tk]
Gravis, Multiple Sclerosis, and Muscle Spasms Outline Myasthenia Gravis Pathophysiology Acetylcholinesterase. Myasthenia Gravis emphasizing in diagnosis and management as much in. [hardshipstockbrokers.tk]
Prevention
Often, the stretch will not only help with the occurring stretch it will help prevent future cramps. [medxofestes.com]
Includes symptoms, causes, medications, diagnosis, treatments, prevention, and prognosis information. Aminoglykosidy, ciprofloxacin, imipen, makrolidy. Most myasthenics, with the help of either drugs and. Možn podat ATB a chemoterapeutika. [focusesawake.gq]
L I M I T (v) to limit (someone), esp. to prevent them from enjoying a full life Worry and lack of money cramp the lives of the unemployed. [japanesedictionary.info]
Includes symptoms, causes, medications, diagnosis, treatments, prevention, and prognosis information. Myasthenia gravis jest mało znaną chorobą przewlekłą,. Operative abdominal distention, and post. Is a muscle relaxant used. [hardshipstockbrokers.tk]
Medications that suppress the immune system may be used to help prevent the immune system from attacking the body. [rarediseases.info.nih.gov]