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CASE REPORT
Year : 1997  |  Volume : 63  |  Issue : 2  |  Page : 120-122

Olmsted syndrome with hypotrichosis




Correspondence Address:
Devraj Dogra


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Source of Support: None, Conflict of Interest: None


PMID: 20944293

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  Abstract 

Olmsted syndrome is characterised by mutilating palmoplantar keratoderma with peri-orificial hyperkeratosis. We report the case of an 8-year old boy who presented with severe keratoderma of the soles since birth and of the palms from the age of 3 years. At 3 years of age hyperkeratotic plaques appeared on the elbows and knees. The child developed keratotic lesions at the angle of the mouth 1 year later. The child had sparse thin easily pluckable hair. Light and scanning electron microscopic examination of the hair revealed several hair shaft abnormalities. Though the psychomotor development of the child was normal till 1 year of age, thereafter the keratoderma had largely restricted the child's mobility. There was no history of hyperhidrosis and no dental abnormality was detected. The lesions had been unresponsive to keratolytics and had recurred after surgical removal. The patient was started on oral retinoids and topical keratolytics and had partially responded in 2 months.


Keywords: Olmsted syndrome, Palmoplantar keratoderma Follicular papules, Hair shaft abnormalities


How to cite this article:
Dogra D, Ravindraprasad J S, Khanna N, Pan. Olmsted syndrome with hypotrichosis. Indian J Dermatol Venereol Leprol 1997;63:120-2

How to cite this URL:
Dogra D, Ravindraprasad J S, Khanna N, Pan. Olmsted syndrome with hypotrichosis. Indian J Dermatol Venereol Leprol [serial online] 1997 [cited 2019 Jun 16];63:120-2. Available from: http://www.ijdvl.com/text.asp?1997/63/2/120/4536



  Introduction Top


Olmsted syndrome (mutilating palmoplantar keratoderma and periorificial involvement) is characterised by the presence of congenital, diffuse, symmetric, sharply marginated, mutilating palmo-plantar keratoderma with periorificial hyperkeratosis. Only a few cases of this rare syndrome have been reported till now.[1][2][3][4] We report a case of Olmsted syndrome who had massive palmoplantar keratoderma with periorificial involvement and hypotrichosis.


  Case Report Top


An 8-year-old boy presented with palmo-plantar keratoderma present on the soles from birth and on the palms since the age of 3 years. He also had hypotrichosis since birth and keratotic plaques appeared at the angle of the mouth at the age of 4 years. The keratoderma, first noticed as yellowish hyperkeratotic plaques on the heels gradually extended to involve the sole. Similar thickened plaques appeared on the palms at the age of 3 years. Within the next 2 years lesions progressed to manifest as painful, massive, hyperkeratotic fissured plaques on the palms and soles with flexion deformities of digits. At the age of 3 years the child also developed hyperkeratotic fissured plaques on the palms and soles with flexion deformities of digits. The patient developed constriction bands at the base of digits. The patient developed constriction bands at the base of digits. At the age of 3 years the child also developed hyperkeratotic lesions on the elbows and the knees. Yellowish keratotic, fissured plaques appeared at the angles of the mouth when the child was 4 years old and these have progressed slowly.

The child had no hair on the scalp and eyebrows at birth, but by the age of about 6 months, sparse, light brown, curly, thin hair appeared on the scalp, but these have never grown to more than 1 to 2 cms in length. The nails also gradually became dystrophic. Conventional keratolytics and emollients resulted in only minimal relief. Surgical removal of the hyperkeratotic mounds was attempted but this provided temporary relief for about 6 months.

The psychomotor development of the child had been normal till the age of 1 year, but thereafter due to the deformities and pain, his mobility had been largely restricted. There is no history of abnormal dentition, joint laxity or hyperhidrosis. There was no history of similar disease in the family.

Examination revealed an undernourished child with apparently normal intelligence. His height and head circumference were within normal limits for his age. There were dirty, heaped up, fissured keratotic mounds with an erythematous border on palms and soles [Figure - 1]. The keratotic plaques were hard, tender, well marginated, 4 to 5 cm thick showing transgriedence at the proximal border of the palm. On the soles the lesions resembled 'platform sandals'. The fingers and toes showed fixed flexion deformity with nails showing dystrophy, thickening and onychogryphotic changes with extensive subungual debris. The second toe of both feet showed constriction bands with tenderness and swelling. Thick, brown hyperkeratotic plaques with an erythematous halo were also present on the knuckles, elbows and knees. Patients had light brown, fissured scaly plaques of 1 cm at the angles of the mouth [Figure - 2]. The dorsal aspect of the tongue showed a white plaque with streaks.

The scalp hair were light brown, sparse, curly, thin and easily pluckable. Skin coloured, tiny, follicular papules were also present especially at the nape of the neck. Examination of the teeth, eyes and joints was found to be normal.

Routine haemogram, liver and kidney function tests, urine and stool examinations were within normal limits. Skin biopsy from one of the papules on scalp showed normal hair follicles and sweat ducts with minimal perivascular inflammatory infiltrate in the upper dermis. Microscopic examination of the hair showed a thin hair shaft, decreased pigment and a broad medulla. At scanning electron microscopy, the hair showed segmental thinning and twisting of the shaft, with premature weathering and complete loss of cuticular scales. Several longitudinal ridges and transverse fractures of the hair shaft were observed.

Use of topical keratolytics (40% urea cream) and white petrolatum resulted in unsatisfactory response. We, therefore started the patient on etretinate (0.5 mg/kg) along with topical keratolytics and emollients. There was partial improvement in 8 weeks of this therapy and the patient was able to walk with the help of appropriate foot wear.


  Discussion Top


Olmsted[1] described a 5-year-old male who developed sharply marginated palmoplantar keratoderma during first year of life. The thick keratoderma led to flexion deformities and autoamputation of the digits. This patient also had periorificial sharply marginated, hyperkeratotic plaques. Although the aetiology of this disorder is unknown, occurrence of familial cases has been documented.[3][4]

Our patient had palmoplantar keratoderma with perioral hyperkeratosis, as described in earlier patients of Olmsted syndrome.[1][2][3] However, palmoplantar keratoderma of our patient was much more severe. Perianal, periaural and perinasal involvement was not seen. Poulin et al[2]described a case of Olmsted syndrome in whom palmoplantar keratoderma was associated with congenital universal alopecia, absence of premolar teeth and leukokeratosis of oral cavity. Our patient had hypotrichosis with the hair shaft showing several defects. Leukokeratosis was also seen. Short stature and retarded growth was seen in 3 of the 6 reported patients.[1][3]Two patients had somewhat retarded psychomotor development.[1][2]Relative immobility due to physical deformity may be playing an important part in hampering the psychomotor development. Our patient seems to be of normal intelligence as that reported by Poulin et al.[2]

No treatment modality seems to alleviate the agony that these patients suffer. Conventional keratolytics and emollients give little relief.[1][2][3][4]Etretinate has been reported to result in partial improvement[5] but is ineffective in arresting the progressive course.[4] Surgical removal of keratoderma and skin grafting gives only short term benefit.[3] Our patient had temporary relief with surgical removal of plaques. As none of the treatment modalities arrest the progress of the disease, a multipronged symptomatic approach with emollients, keratolytics and etretinate may be required, depending on the severity of the disease.

 
  References Top

1.Olmsted HC. Keratoderma palmaris et plantaris congenitalis : report of a case showing associated lesions of unusual location. Am J Dis Child 1927;33:757-64.  Back to cited text no. 1    
2.Poulin Y, Perry HO, Muller SA. Olmsted syndrome : congenital palmoplantar and periorificial keratoderma. J Am Acad Dermatol 1984;10:600-10.  Back to cited text no. 2  [PUBMED]  
3.Atherton DJ, Sutton C, Jones BM. Mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted syndrome). Br J Dermatol 1990;122:245-52.  Back to cited text no. 3  [PUBMED]  
4.Cambiaghi S, Tagini G, Barbareschi M. Olmsted syndrome in twins. Arch Dermatol 1995;13:738-9.  Back to cited text no. 4    
5.Ueda M, Nakagawa K, Hayashi K. Partial improvement of Olmsted syndrome with etretinate. Pediatr Dermatol 1993;10:376-81.  Back to cited text no. 5    


    Figures

[Figure - 1], [Figure - 2]



 

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