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CASE REPORT
Year : 2019  |  Volume : 20  |  Issue : 3  |  Page : 236-239

A girl with alopecia and skeletal deformities: Satoyoshi syndrome with review of literature


1 Department of Dermatology, Venereology and Leprosy, Koppal Institute of Medical Sciences, Koppal, Karnataka, India
2 Department of Pediatrics, Koppal Institute of Medical Sciences, Koppal, Karnataka, India

Date of Web Publication28-Jun-2019

Correspondence Address:
Dr. K Udaya
Department of Pediatrics, Koppal Institute of Medical Sciences, Hospet Road, Koppal - 583 231, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijpd.IJPD_117_18

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  Abstract 


Satoyoshi syndrome is a rare disease characterized by alopecia, recurrent muscle spasms, diarrhea, and skeletal abnormalities. It is a multisystem disorder of suspected autoimmune etiology. We report a 12-year-old-girl presented with loss of hair from the scalp for 7 years. She had a history of muscle spasms of lower limbs, which used to last for a few minutes; the attacks of spasms were intermittent in nature and involved thigh and calf muscles. She had genu valgum deformity of the right knee and knock-knee gait. Central nervous system examination showed no abnormality. Her laboratory investigations including routine screening and endocrine evaluations were within normal limits, except for microcytic hypochromic anemia. Ultrasonography (USG) abdomen revealed relatively small uterus. X-ray of the right knee showed deformed shape of the epiphysis and dense metaphyseal band of bones. Histopathological examination (HPE) scalp showed noncicatricial alopecia with the absence of functional follicles and dermal lymphocytic infiltration. On the basis of clinical investigations, blood investigations, USG, and radiological findings, diagnosis of SS was made. SS is a sporadic disease with the mean age of onset of the disease being 10 years, but a few adult cases have also been reported. The usual initial symptoms are alopecia and painful muscle spasms. Treatment with oral corticosteroids has shown good response. The case is being presented to create awareness not only among dermatologists but also among pediatricians and orthopedicians about the multisystem involvement and long-term-associated complications and to emphasize the need of early diagnosis and treatment.

Keywords: Alopecia, diarrhea, skeletal deformity


How to cite this article:
Pandit VS, Udaya K. A girl with alopecia and skeletal deformities: Satoyoshi syndrome with review of literature. Indian J Paediatr Dermatol 2019;20:236-9

How to cite this URL:
Pandit VS, Udaya K. A girl with alopecia and skeletal deformities: Satoyoshi syndrome with review of literature. Indian J Paediatr Dermatol [serial online] 2019 [cited 2019 Jul 16];20:236-9. Available from: http://www.ijpd.in/text.asp?2019/20/3/236/261866




  Introduction Top


Satoyoshi syndrome (SS) is a rare disease characterized by alopecia, recurrent muscle spasms, diarrhea, and skeletal abnormalities.[1] Around 60 cases have been reported throughout the world including cases from Japan, Chile, Brazil, Russia, Argentina, and a few cases from India. We describe a rare case of SS in a 12-year-old Indian girl and review the literature.


  Case Report Top


A 12-year-old-girl presented with loss of hair from the scalp for 7 years. Hair loss progressively involved both the eyebrows and eyelashes. There was no history of skin lesions on the scalp before the onset of hair loss. She had a history of muscle spasms of lower limbs, which used to last for a few minutes; the attacks of spasms were intermittent in nature and involved thigh and calf muscles. Her birth and developmental history had been normal. On examination, her height 119 cm and weight 25 kg were below the third percentile for her age and sex according to Indian Academy of Pediatrics growth charts. There was marked loss of hair from the scalp (except for the occipital region where a few hair were seen) and both eyebrows and eyelashes [Figure 1]. She had genu valgum deformity of the right knee and knock-knee gait. Neurological examination revealed normal mental state and speech. Cranial nerves were intact. There was normal muscle tone and Grade 5 power in all muscles and no muscle tenderness. There was no evidence of cerebellar signs or neurological deficit. Other systemic examination did not reveal any abnormality. Her vitals were normal. Her laboratory investigations including complete hemogram showed microcytic hypochromic anemia; liver and renal function tests were within normal limits. Other metabolic and immunological investigations are given in [Table 1]. Endocrinologic evaluation including thyroid function tests, parathormone, growth hormone, follicle-stimulating hormone, and luteinizing hormone was within normal limits. The USG of the abdomen revealed relatively small uterus [Figure 2] measuring 5 cm × 2 cm × 1.5 cm with normal ovaries. X-ray of the right knee showed genu valgum deformity with widening of medial part of the epiphysis of distal femur [Figure 3]. Deformed shape of the epiphysis and dense metaphyseal band of bones around the knee joint were also noted. The histopathology of the scalp showed evidence of noncicatricial alopecia with the absence of functional follicles and dermal lymphocytic infiltration [Figure 4]. On the basis of clinical investigations, blood investigations, USG, and radiological findings, diagnosis of SS was made.
Figure 1: Clinical photo showing girl with near-total alopecia

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Table 1: Metabolic and immunological tests

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Figure 2: Ultrasonographic image of hypoplastic uterus

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Figure 3: X-ray film of the right genu valgum deformity with dense metaphyseal bands

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Figure 4: Histopathological examination scalp suggestive of noncicatricial alopecia with mild dermal lymphocytic infiltration (H and E, ×10)

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  Discussion Top


SS is a multisystem disorder of suspected autoimmune etiology. It was first described by Satoyoshi and Yamada in 1967.[1] Although majority of the cases have been reported from Japan, it probably exists in all ethnic regions. The condition was previously known as “komuragaeri” (Komura=calf, gaeri=turnover or spasm) disease, derived from the Japanese, meaning “calf spasms.”

SS is a sporadic disease with the mean age of onset of the disease being 10 years (ranges from 6 to 15 years), but a few adult cases have also been reported.[2],[3],[4] It is more common in females. The usual initial symptoms are alopecia and painful muscle spasms. Loss of hair usually presents as near-total alopecia, alopecia totalis, or alopecia universalis. Alopecia commonly develops in the first or second decade of life. Alopecia usually precedes the other features of SS.[2]

The muscle spasms are painful, progressive, and intermittent in nature. They may be triggered by cold temperature, mechanical injury, exercise, and emotional stimuli.[5] The frequency of spasms varies from 1 or 2 to 100 per day, each lasting a few minutes. Commonly involved muscles are limb-girdle muscles, neck, and trunk muscles; rarely, masticatory (temporalis and masseters) and respiratory muscles are also involved affecting the process of eating, speech, and respiration. The onset of muscle spasms followed hair loss in many cases; however, in few cases, concurrent appearance of alopecia and spasms is seen [Table 2].
Table 2: Satoyoshi syndrome: Review of reported cases

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The other cardinal symptom of SS is diarrhea which is usually seen in one-third of the patients. Age, sex or the presence of circulating anti-nuclear antibodies did not determine the occurrence of diarrhea.[5] As long-term complications of this, carbohydrate malabsorption, steatorrhea, growth retardation, and iron deficiency anemia may develop in these patients. Similar to a case report by Wisuthsarewong et al.,[6] our patient did not have diarrhea. Other features of SS include skeletal deformities, endocrinopathies, and growth retardation.

The characteristic skeletal deformity of this syndrome is multiple metaphyseal bands. Other skeletal abnormalities may manifest as genu valgum/varus, lumbar lordosis, pes planus, acro-osteolysis of phalanges, slipping of epiphyses, sclerotic metaphyseal bands, metaphyseal cysts/defects, bone fragmentation at tendinous insertions, fatigue fractures, and early osteoarthrosis. The severity of skeletal abnormalities is greater with disease onset before the age of 18 years.[3],[4]

Endocrine abnormalities in SS can manifest as Hashimoto's thyroiditis, amenorrhea and/or hyploplastic uterus and ovaries.[9] Our patient's uterine size was 5 cm × 2 cm × 1.5 cm which is small for her age. The etiopathogenesis of SS is not known although there are a few evidences for autoimmune basis for this syndrome such as association with myasthenia gravis, idiopathic thrombocytopenic purpura, Hashimoto's thyroiditis, response to steroids, the presence of antinuclear antibody (ANA), and increased immunoglobulins. Positive ANA levels are seen in 50% of the patients and treatment response was good in these patients.[5]

The syndrome needs to be differentiated from Vitamin D-dependent rickets, malabsorption syndrome, McArdle disease, cartilage–hair (VDDR Type II) hypoplasia, and mixed connective tissue disorder because of the multisystemic manifestations of this syndrome are easily misdiagnosed unless there is high index of suspicion.

Treatment with oral corticosteroids has shown good a response in many of the reported cases. Other adjuvants such as cyclophosphamide, methotrexate, and azathioprine have been used with varying efficacy. Dantrolene, acetazolamide, calcium gluconate, diazepam, phenytoin, botulinum toxin, and plasmapheresis have shown efficacy in reducing muscle spasms.[2],[3],[10]


  Conclusion Top


We report this rare syndrome to create awareness not only among dermatologists but also among pediatricians and orthopedicians about the multisystem involvement and long-term-associated complications. Hence, early diagnosis and management are necessary to prevent long-term complications of this syndrome.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Satoyoshi E, Yamada K. Recurrent muscle spasms of central origin. A report of two cases. Arch Neurol 1967;16:254-64.  Back to cited text no. 1
    
2.
Ashalatha R, Kishore A, Sarada C, Nair MD. Satoyoshi syndrome. Neurol India 2004;52:94-5.  Back to cited text no. 2
[PUBMED]  [Full text]  
3.
Ikeda K, Satoyoshi E, Kinoshita M, Wakata N, Iwasaki Y. Satoyoshi's syndrome in an adult: A review of the literature of adult onset cases. Intern Med 1998;37:784-7.  Back to cited text no. 3
    
4.
Ishihara M, Ogawa K, Suzuki Y, Kamei S, Ochiai T, Sonoo M, et al. Adult-onset Satoyoshi syndrome with prominent laterality of clinical features. Intern Med 2014;53:2811-6.  Back to cited text no. 4
    
5.
Rudnicka L, Kwiatkowska M, Rakowska A, Czuwara J, Olszewska M. Alopecia areata. How not to miss Satoyoshi syndrome? J Dermatol 2014;41:951-6.  Back to cited text no. 5
    
6.
Wisuthsarewong W, Likitmaskul S, Manonukul J. Satoyoshi syndrome. Pediatr Dermatol 2001;18:406-10.  Back to cited text no. 6
    
7.
Mani V, George R. Satoyoshi syndrome – A case report from India. Pediatr Dermatol 2017;34:e296-8.  Back to cited text no. 7
    
8.
Merino de Paz N, Rodriguez-Martin M, Contreras Ferrer P, Eliche MP, Noda Cabrera A. Satoyoshi syndrome: A cause of alopecia universalis in association with neurologic and bony abnormalities. Pediatr Dermatol 2013;30:e22-4.  Back to cited text no. 8
    
9.
Mukhopadhyay D, Ghosh A, Mukhopadhyay M. Satoyoshi syndrome. Indian Pediatr 2011;48:729-31.  Back to cited text no. 9
    
10.
Aghoram R, Srijithesh PR, Kannoth S. Adult-onset Satoyoshi syndrome and response to plasmapheresis. Ann Indian Acad Neurol 2016;19:131-3.  Back to cited text no. 10
[PUBMED]  [Full text]  


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]
 
 
    Tables

  [Table 1], [Table 2]



 

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