|Ahead of print publication
Camisa disease: A rare case report
Arpita N Rout, Kananbala Sahu, Chandra S Sirka
Department of Dermatology and Venereology, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India
|Date of Web Publication||24-Jan-2020|
Arpita N Rout,
Department of Dermatology and Venereology, All India Institute of Medical Sciences, Bhubaneswar - 751 019, Odisha
Source of Support: None, Conflict of Interest: None
Camisa disease is a rare variant of Vohwinkel's syndrome associated with generalized ichthyosis and no deafness. Clinical features include diffuse “honeycomb-like” thickening of palms and soles, generalized ichthyosis, and fibrous constricting bands (pseudoainhum) at the interphalangeal joints of hands and feet. We report a case of a 9-year-old male presenting with hyperkeratosis of the palms and soles, generalized dryness and scaling since birth with pseudoainhum at the base of fifth toes, and without any deafness.
A 9-year-old male child born out of nonconsanguineous marriage presented with thickening of palms and soles and generalized scaling since birth. Family history was non-contributory. No delay in developmental milestones was noted. There was no history of atopy in the patient or family members. On examination, there was diffuse non-transgradient hyperkeratosis of the palms and soles with generalized dryness and scaling [Figure 1]. Constricting fibrous bands were seen at the base of bilateral fifth toes [Figure 2]. Generalized ichthyosis was present, being more prominent over extensor aspects of extremities [Figure 1] and [Figure 2]. There was no abnormality in hair and nails. His audiogram and eye and dental examination were normal. Hematological and biochemical investigations were within normal limits. Skin biopsy revealed hyperkeratosis, focal parakeratosis, acanthosis, elongation of rete ridges, and sparse dermal lymphocytic infiltrate with normal appendages [Figure 3]. Thus, from the clinical features and histopathological findings, a final diagnosis of Camisa disease was made. Gene mapping could not be done due to lack of facilities. The patient was started on oral isotretinoin 20 mg per day with which, within 1 month, the ichthyosis part improved [Figure 4], but there was no change in the pseudoainhum lesion. The right toe had undergone a gangrenous change at later presentation; thus, complete excision at the point of constriction was done. The parents opted for excision of the other fifth toe after two months during the follow-up visit.
|Figure 1: Diffuse ichthyosis along with non-transgradient keratoderma and pseudoainhum at base of both fifth toes|
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|Figure 3: Histopathology showing hyperkeratosis, focal parakeratosis, acanthosis, elongation of rete ridges, and sparse dermal lymphocytic infiltrate with [H and E, 100×]|
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|Figure 4: Improvement of ichthyosis after isotretinoin therapy but no change in pseudoainhum|
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Camisa disease is a rare autosomal dominant palmoplantar keratoderma, with approximately 10 cases reported in the literature. The diagnostic features of Camisa disease include palmoplantar hyperkeratosis and constricting bands on the digits of hands or feet with generalized ichthyosis. Nail dystrophy, alopecia, onychogryphosis, and a variety of neurological abnormalities may also occur. This condition is differentiated from Vohwinkle's syndrome by the absence of sensorineural deafness.
Camisa disease is characterized by loricrin mutation. This protein is synthesized in the granular layer and forms a cornified cell envelope. Thus, it acts as an effective barrier between the body and the environment. This mutation presents as palmoplantar keratoderma, generalized thin desquamation on the extensor surfaces of the finger joints, and constricting bands around the digits (pseudoainhum).
Histopathological findings include hyperkeratosis, focal parakeratosis, acanthosis, elongation of rete ridges, and sparse dermal lymphocytic infiltrate with normal appendages.
The treatment is very difficult and tends to be symptomatic. Keratolytic agents and systemic retinoids are used for the treatment of hyperkeratosis but without consistent results. Reconstructive surgery is used to treat pseudoainhum. Excision of the constricting bands, the use of grafts and flaps, has been an alternative to hyperkeratosis and autoamputation of the digits. A previously reported case showed improvement of pseudoainhum with oral retinoids. In our case, the ichthyosis component improved dramatically with oral retinoids, but palmoplantar keratoderma and pseudoainhum did not improve. Thus, in advanced cases of pseudoainhum, retinoids are less effective and rather reconstructive surgeries should be undertaken.
Thus, our case with diffuse palmoplantar keratoderma, pseudoainhum, and ichthyosis represents a rare variant of Vohwinkel's syndrome, termed as Camisa disease. The histopathology of our case was similar to previously reported cases. We report this case for its rarity.
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.
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Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4]