Olmsted Syndrome: Rare Occurrence in Four Siblings.

Olmsted syndrome is a very rare and severe cicatrizing keratoderma associated with periorificial lesion. Most cases are sporadic but familial occurrence has been also seen. Till now around 73 cases have been reported and none of the reported cases have 4 siblings affected from this disease. We are reporting cases of 4 siblings of age 30 year female, 26 year female, 20 year male and 10 year male who were born to a third degree consangueinous marriage and presented with palmoplantar keratoderma, periorificial hyperkeratosis, flexion deformity, pseudoainhum and contracture of digits. There was no cardiac involvement. Hence, the diagnosis of Olmsted syndrome was made and all four patients were non responsive to treatment which included topical corticosteroid, topical salicylic acid, systemic isotretinoin, systemic acitretin and oral zinc in child.

What was known?

Olmsted syndrome is mainly sporadic palmoplantar keratoderma with male preponderance.

Introduction

Olmsted syndrome is a very rare genodermatosis. After the original description by Olmsted in 1927, until December 2014, only 73 cases had been reported.[1] The classical Olmsted syndrome consists of bilateral mutilating palmoplantar keratoderma with periorificial keratotic plaques, but high clinical variability and inconsistent clinical features have also been reported.[23]

Case Report

In a family of eight siblings, two sisters and two brothers aged 30, 22, 20, and 10 years and born of second-degree consanguineous marriage presented with the complaint of thickening and scaling over their palms and soles for a few months after their birth [Figure 1]. All the four siblings were born by normal vaginal delivery and were completely normal at their birth. At first, tiny vesicles developed at the tip of their fingers at 1–2 months of their extrauterine life. These vesicles then ruptured in a short time after which peeling of the skin occurred followed by scaling and thickening. Similar lesions developed on their hands and feet within 1st year of their life. Gradually, similar lesions progressed to cover whole of the palms, dorsum of the hands, elbows, soles, dorsum of the feet, and perianal and perioral areas.

Figure 1

All four siblings

On examination, diffuse bilateral symmetrical, thickened, yellowish, waxy hyperkeratotic plaques were present on both the palms and soles [Figures 2-6], with scaly keratotic plaques on dorsum of the hands and feet [Figures 7 and 8], elbows and around external genitalia [Figures 9 and 10], knees [Figures 1 and 11], perianal [Figures 3 and 12-14] and perioral areas [Figures 15-18], with the exception of one sibling having normal perianal area and no involvement of knees and elbows. Flexion deformities were present in both the hands and feet with constricting bands in few of digits forming pseudoainhum [Figures 7 and 19]. All the nails were dystrophic [Figures 7 and 8]. All the four siblings had normal intelligence. Hair, ocular mucosa, oral mucosa, teeth, sweating and hearing were also normal. There was no family history of similar lesions in other than reported members of the family.

Figure 2

Perianal hyperkeratosis and hyperkeratosis of foot including sole of the 10-year-old male

Figure 6

Hyperkeratosis in palms of the 20-year-old male

Figure 7

Hyperkeratosis of hands and legs with contracture in the 22-year-old female

Figure 8

Hyperkeratosis of hand and legs of the 30-year-old female

Figure 9

Hyperkeratosis in elbows of the 10-year-old male

Figure 10

Hyperkeratosis of elbow in the 20-year-old male

Figure 11

Hyperkeratosis of knee and hand in the 20-year-old male

Figure 3

Perianal hyperkeratosis and hyperkeratosis of soles in the 20-year-old male

Figure 12

Perivaginal lesion of the 22-year-old female

Figure 14

Lesion in buttock area of the 30-year-old female

Figure 15

Perioral hypopigmentation and keratosis in the male of age 10 years

Figure 18

Perioral lesion of the 30-year-old female

Figure 19

Palmar keratoderma and contracture of the 22-year-old female

Plantar keratoderma of the 20-year-old male

Hyperkeratosis of palm and soles in the 30-year-old female

Hyperkeratosis in genital area and thigh of the 30-year-old female

Perioral keratosis in the 20-year-old male

Perioral lesion of the 22-year-old female

Routine hemogram, liver and renal function tests and urine examination were normal. HIV 1 and 2 ELISA and rapid plasma reagin tests were nonreactive. In a histopathological examination of the lesions, the epidermis showed thickened stratum corneum and granular layer with marked compact orthokeratosis in stratum corneum. Papillary dermis was thickened and showed thickened bundles of collagen. Superficial perivascular lymphohistiocytic infiltrate with papillary dermal hyperplasia was seen [Figure 20]. Patients were treated with oral isotretinoin and topically with keratolytics and emollients.

Figure 20

Epidermis showing thickened stratum corneum and granular layer with marked compact orthokeratosis in stratum corneum. Papillary dermis was thickened and showed thickened bundles of collagen (H and E, ×100)

Discussion

Olmsted first described this disorder in 1927 in a 5-year-old boy who presented with palmoplantar keratoderma and periorificial keratosis.[4] Very few cases are reported familial; otherwise, most are sporadic.[567]

It is considered very rare in female patients.[3] In our case, out of 8 children who were born from normal parents as a result of consanguineous marriage (third-degree relative), 4 were males and 4 were females; out of these, 2 males and 2 females were affected which was against its autosomal dominant pattern of inheritance found in other studies.[8] Olmsted syndrome usual onset is in infancy; in most cases, it starts with erythema around orifice and flexures followed by development of palmoplantar keratoderma which is diffuse and transgradient. Keratotic papules develop later and similar lesion is also usually found in gluteal region, popliteal fossa, and knee.[69] In addition to these clinical findings, Olmsted syndrome may also present with keratosis pilaris, alopecia, corneal dystrophy, nail dystrophy, tooth abnormalities, primary sclerosing cholangitis, hemangioma, dacryocystitis, joint laxity and deaf-mutism.[678910]

Palmoplantar keratoderma and periorificial plaques were diagnostic in our patients and thus excluded mal de Maleda, Voh Winkel syndrome, and pachyonychia congenita. There was no response of oral zinc 200 mg twice daily for 1 month in male child of 10 years age which ruled out acrodermatitis enteropathica.[11] The disease has a progressive course and interferes with normal functioning such as walking and other routine functioning. There is no satisfactory treatment; what we can offer is only symptomatic relief of pain and fissures by topical agents such as corticosteroids, boric acid and salicylic acid which work by reducing the thickening of palmoplantar keratosis.[12] A few authors have reported benefit in palmoplantar keratoderma and periorificial keratotic plaques after 3 months of therapy with systemic retinoids.[13]

Declaration of patient consent

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

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

What is new?

We reported an extremely rare familial case with an equal male to female ratio.