Abstract
Immediate treatment of Camisa syndrome with systemic retinoids or surgery helps to prevent loss of digits. Here, we report a case of Camisa syndrome with pseudoainhum in the fifth toe leading to amputation as timely treatment was not sought.
Keywords: acitretin, camisa syndrome, pseudoainhum
Timely recognition and prompt management of Camisa syndrome are essential to prevent the pseudoainhum formation and thus amputation.
1. INTRODUCTION
Vohwinkel syndrome (VS), also known as keratoderma hereditaria mutilans, is a rare, autosomal dominant, and syndromic form of diffuse palmoplantar keratoderma (PPK) which manifests as hyperkeratosis of the palms and soles with a honeycomb appearance. 1
Vohwinkel's syndrome is classified into two variants: (1) a deafness‐associated variant (Classical) and (2) an ichthyosis‐associated variant (Camisa syndrome). 2 Camisa syndrome, also called as variant Vohwinkel's syndrome or loricrin keratoderma, is a rare variant that is associated with ichthyosis most commonly ichthyosis vulgaris and lamellar ichthyosis. 3 Pseudoainhum (constricting circumferential band around a digit or limb) is one of the classical features of this syndrome while starfish‐shaped keratotic papules and deafness are not observed. 4 , 5
Recently, it has been shown that gain‐of‐function mutations in LOR on 1q21.3. underlies the ichthyotic variant while that in connexin 26, genes causes VS with deafness. 6 , 7 The histological features of Camisa syndrome include hyperkeratosis with orthokeratosis and focal parakeratosis, acanthosis, elongation of rete ridges, and sparse dermal lymphocytic infiltrate with normal appendages. 8 , 9 Retinoids such as acitretin and isotretinoin have been prove to be effective in hereditary palmoplantar keratoderma and preventing pseudoainhum. 10 , 11
Here, we report a case of Camisa syndrome, who lost her digit due to lack of timely treatment.
2. CASE REPORT
We present a case of 38‐year‐old woman who presented to our Dermatology OPD with complaints of palmoplantar thickening and scaling. During her childhood, she had noticed slight scaling localized to bilateral palms and soles which then progressed to become brownish honeycomb transgradient hyperkeratosis over a period of around ten years (Figure 1A, B; Figure 2A, B). It was associated with pain, tightening, and winter aggravation. She also had generalized dryness of the skin. However, she did not receive any treatment, and at the age of twenty‐five years, she gradually developed a constriction band around the fifth toe which gradually tightened leading to pseudoainhum with amputation at the level of the proximal interphalangeal joint (Figure 2A, B). Her hearing, vision, hair, and nails were normal. Among her two children, the elder son is eleven years old and is also affected and the younger daughter is unaffected till this date. Considering the presence of transgradient honeycomb keratoderma with generalized ichthyosis and pseudoainhum in the absence of deafness, a diagnosis of Camisa syndrome was made.
FIGURE 1.
Brownish honeycomb transgradient hyperkeratosis in bilateral palms and circumferential constriction in eight fingers
FIGURE 2.
Pseudoainhum with amputation at the level of proximal interphalangeal joint (arrow heads)
3. TREATMENT AND FOLLOW‐UP
Initially, she was treated with oral acitretin, and currently, she is under maintenance therapy with topical urea and salicylic acid. She is also being closely followed up to assess for further progression of disease and formation of pseudoainhum.
4. DISCUSSION
Vohwinkel syndrome was first described in 1929 by Vohwinkel. VS with ichthyosis (Camisa's syndrome) is a rare group of inherited genodermatoses, with very few cases reported in the literature. 1 It has an autosomal dominant inheritance due to mutations in LOR, starting in childhood, and occurring predominantly in females and Caucasians. 7 , 12 Our case and her son also had childhood onset. Furthermore, it can be made out that the mother had sporadic condition and the son got it from her in an autosomal dominant fashion.
Clinical features of Camisa's syndrome include generalized ichthyosis and honeycomb‐like palmoplantar keratoderma, with or without varying degrees of constricted digits, erythematous plaques, and/or erythroderma. 7 , 8 Honey comb‐like keratoderma, pseudoainhum, and ichthyosis were present in our patient, and her hearing was normal. Pseudoainhum and amputation are most common in the fifth toe, which was the case in our patient as well. (Table 1).
TABLE 1.
Case reports of Camisa disease
| SN | Authors | Country | No. of cases | Cases with Pseudoainhum | Digits | Age of pseudoainhum | Amputation | Treatment |
|---|---|---|---|---|---|---|---|---|
| 1 | Kura, Parsewar 13 | India | 1 | 1 | Left 5th toe | 14 years | Absent | Acitretin 25 mg PO BD x 6 months |
| 2 | Reinehret al 5 | Brazil | 19 (1 family) | 1 | 2nd and 5th finger of hand | Not mentioned | Absent | Not mentioned |
| 3 | O’Driscoll et al 2 | UK | 14 (1 family) | 1 | 5th toes of bilateral feet | Not mentioned | Left 5th toe at 26 years and right 5th toe at 44 years | Surgical amputation done |
| 4 | Korge et al 8 | Scotland | 8 (1 family) | Present but number not specified | Not mentioned | Not mentioned | One had amputation | Not mentioned |
| 5 | Armstrong et al 16 | UK | 8 (1 family) | 6 | Not mentioned | Not mentioned | Absent | Not mentioned |
| 6 |
Maestrini et al 17 Schmuth et al 18 |
USA | 16 (1 family) | Nearly all (number not specified) | 4th or 5th digit of hands or feet | Not mentioned | Some had amputation of bilateral 5th toe | Not mentioned |
| 7 | Rajashekar et al 9 | India | 1 | 1 | Right 1st and 5thtoes | Not mentioned | Absent | Not mentioned |
| 8 | Corte et al 19 | Brazil | 2 (1 family) | 2 | Left 5th toe | Not mentioned | Present in 1 patient | Not mentioned |
| 9 | Camisa, Rossano 3 | Not available | Not available | Absent | Not applicable | Not applicable | Not applicable | Isotretinoin |
| 10 | Takahashi et al 20 | Japan | 1 | 1 | All fingers and 5th toes | Not mentioned | Absent | Not mentioned |
| 11 | Zamiri et al 15 | UK | 1 | 1 | All fingers | Not mentioned | Absent | Acitretin, keratolytic, full‐thickness skin graft |
| 12 | Suzuki et al 21 | Japan | 8 (2 families) | 5 | Not mentioned | Not mentioned | Not mentioned | Not mentioned |
| 13 | Nico, Fernandes 10 | Brazil | 1 | 1 | Right 5th toe | Not mentioned | Right 5th toe at 25 years | Isotretinoin 0.5 mg/kg x 8 months |
| 14 | Hotz et al 22 | Brazil, Brazilian origin, France | 4 (3 families) | 3 |
1st—mild constriction 2nd—Fingers 3rd – 5th toe |
Not mentioned | Absent | Not mentioned |
| 15 | Kinsler et al 23 | Not specified | 5 (1 family) | Not mentioned | Not applicable | Not applicable | Not applicable | Not mentioned |
| 16 | Mu~noz‐Aceituno et al 24 | Spain | 2 (1 family) | Absent | Not applicable | Not applicable | Not applicable | Emollients |
| 17 | Matsumoto et al 25 | Japan | 3 (1 family) | 3 | PIP of all fingers |
1st—3 years Not mentioned in the other 2 cases |
Absent | Not mentioned |
| 18 | Gedicke et al 26 | Germany | 5 (1 family) | Absent | Not applicable | Not applicable | Not applicable | Not mentioned |
| 19 | Drera et al 27 | Italy | 2 (1 family) | 1 | DIP and PIP of all fingers | Not mentioned | Absent | Surgical treatment of pseudoainhum |
| 20 | Yeh et al 28 | Taiwan | 3 (1 family) | 3 | DIP of all fingers | Early childhood | Absent | Not mentioned |
| 21 | Song et al 29 | China | 15 (1 family) | Absent | Not applicable | Not applicable | Not applicable | Not mentioned |
| 22 | Pohler et al 30 | Not specified | 10 (1 family) | Absent | Not applicable | Not applicable | Not applicable | Not mentioned |
| 23 | Khalil et al 31 | Iraq | 1 | 1 | Not specified | Not mentioned | Absent | Not mentioned |
| 24 | Ishida‐Yamamoto et al 32 | Japan | 5 | 2 | All fingers | Not mentioned | Absent |
Not mentioned |
| 25 | Present case | Nepal | 2 | 1 | Left 5th toe, 2nd to 5th fingers of both hands | 25 years | 30 years | Acitretin, urea, salicylic acid |
Here, we list the case reports and series of Camisa syndrome and associated pseudoainhum. (Table 1).
Acitretin is a feasible, conservative, and durable therapeutic modality for the treatment of pseudoainhum‑like mutilations associated with ichthyoses and mutilating keratodermas. 13 The use of isotretinoin in a non‐continuous regimen is a reasonable approach in women of childbearing age, especially in cases at risk of amputation due to severe pseudoainhum. 10 For pseudoainhum threatening, the viability of the digits excision of the constricting band followed by Z‐plasty has been reported to be effective. 14 Successful full‐thickness skin grafting for pseudoainhum has also been reported. 15 Our patient was treated with oral acitretin and topical urea and salicylic acid. This has halted the further progression of disease and loss of other digits.
This case highlights the importance of recognition and prompt treatment of Camisa syndrome to prevent the pseudoainhum formation and improve the quality of life.
CONFLICTS OF INTEREST
The authors declare no conflict of interest.
AUTHOR CONTRIBUTIONS
Bibisha Baaniya involved in preparation of manuscript and editing. Sudha Agrawal involved in Idea and literature review.
5. CONSENT
Patient provided written consent for publication of this case report.
ACKNOWLEDGMENTS
Authors would like to thank the patient and her family members for allowing us to share her condition.
Baaniya B, Agrawal S. Exploring Pseudoainhum in Camisa syndrome. Clin Case Rep. 2021;9:e04995. 10.1002/ccr3.4995
Funding information
None
DATA AVAILABILITY STATEMENT
Data will be made available upon request.
REFERENCES
- 1. Vohwinkel KH. Keratoma hereditaria mutilans. Arch Dermatol Syphilol. 1929;158:354‐364. [Google Scholar]
- 2. O’Driscoll J, Muston GC, McGrath JA, et al. A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome. Clin Exp Dermatol. 2002;27(3):243‐246. [DOI] [PubMed] [Google Scholar]
- 3. Camisa C, Rossano C. Variant of keratoderma hereditaria mutilans (Vohwinkel’s syndrome). Treatment with orally administered isotretinoin. Arch Dermatol. 1984;120:1323‐1328. [PubMed] [Google Scholar]
- 4. Burrows N, Lovell C. Disorders of connective tissue. In: Rook AJ, Burns T, Breathnach S, Cox N, Griffiths C, eds. Textbook of Dermatology, 8th ed, vol. 3. Wiley‐Blackwell Science Ltd; 2010:69‐70. [Google Scholar]
- 5. Reinehr CPH, Peruzzo J, Cestari T. Vohwinkel syndrome: ichthyosiform variant in a family. An Bras Dermatol. 2018;93(5):723‐725. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 6. Maestrini E, Korge BP, Ocaña‐Sierra J, et al. A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel’s syndrome) in three unrelated families. Hum Mol Genet. 1999;8(7):1237‐1243. [DOI] [PubMed] [Google Scholar]
- 7. Ishida‐Yamamoto A. Loricrin keratoderma: a novel disease entity characterized by nuclear accumulation of mutant loricrin. J Dermatol Sci. 2003;31(1):3‐8. [DOI] [PubMed] [Google Scholar]
- 8. Korge BP, Ishida‐Yamamoto A, Punter C, et al. Loricrin mutation in Vohwinkel’s keratoderma is unique to the variant with ichthyosis. J Invest Dermatol. 1997;109(4):604‐610. [DOI] [PubMed] [Google Scholar]
- 9. Rajashekar T, Singh G, Naik C, Okade R. Camisa disease: A rare variant of Vohwinkel’s syndrome. Indian J Dermatol Venereol Leprol. 2008;74(1):81. [DOI] [PubMed] [Google Scholar]
- 10. Nico MMS, Fernandes JD. Low‐dose isotretinoin prevents digital amputation in loricrin keratoderma (Vohwinkel syndrome with ichthyosis). JDDG ‐ J Ger Soc Dermatology. 2017;15(6):665‐667. [DOI] [PubMed] [Google Scholar]
- 11. Richey PM, Stone MS. Resolution of pseudoainhum with acitretin therapy in a patient with palmoplantar keratoderma and congenital alopecia. JAAD Case Reports. 2019;5(3):219‐221. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 12. De Sá Cavalcante LI, De Magalhães HÉ, Prata de Almeida TL, Accíoly‐Filho JW. Ceratodermia mutilante de Vohwinkel: Relato de três casos em uma família. An Bras Dermatol. 2003;78(3):311‐318. [Google Scholar]
- 13. Kura MMPS. Reversal of pseudo‐ainhum with acitretin in Camisa’s syndrome. Indian J Dermatol Venereol Leprol. 2014;80(6):572‐574. [DOI] [PubMed] [Google Scholar]
- 14. Ainhum CGJ. An account of fifty‐four patients with special references to etiology and treatment. Bone Joint Surg. 1965;47B:43‐51. [PubMed] [Google Scholar]
- 15. Zamiri M, Watson S. Loricrin palmoplantar keratoderma: full‐thickness skin grafting for pseudoainhum. Clin Exp Dermatol. 2019;44(4):444‐446. [DOI] [PubMed] [Google Scholar]
- 16. Armstrong DKB, McKenna KE, Hughes AE. A novel insertional mutation in loricrin in Vohwinkel’s Keratoderma. J Invest Dermatol. 1998;111(4):702‐704. [DOI] [PubMed] [Google Scholar]
- 17. Maestrini E, Monaco AP, McGrath JA, et al. A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel’s syndrome. Nat Genet. 1996;13(1):70‐77. [DOI] [PubMed] [Google Scholar]
- 18. Schmuth M, Fluhr JW, Crumrine DC, et al. Structural and functional consequences of loricrin mutations in human loricrin keratoderma (Vohwinkel syndrome with ichthyosis). J Invest Dermatol. 2004;122(4):909‐922. [DOI] [PubMed] [Google Scholar]
- 19. Corte LD, da Silva MVS, de Oliveira CF, Vetoratto G, Steglich RB, Borges J. Vohwinkel syndrome, ichthyosiform variant ‐ by Camisa ‐ Case report. An Bras Dermatol. 2013;88(6 suppl 1):206‐208. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 20. Takahashi H, Ishida‐Yamamoto A, Kishi A, Ohara K, Iizuka H. Loricrin gene mutation in a Japanese patient of Vohwinkel’s syndrome. J Dermatol Sci. 1999;19(1):44‐47. [DOI] [PubMed] [Google Scholar]
- 21. Suzuki S, Nomura T, Miyauchi T, et al. Somatic recombination underlies frequent revertant mosaicism in loricrin keratoderma. Life Sci Alliance. 2019;2(1):1‐10. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 22. Hotz A, Bourrat E, Hausser I, Haftek M, Da Silva MV, Fischer J. Two novel mutations in the LOR gene in three families with loricrin keratoderma. Br J Dermatol. 2015;172(4):1158‐1162. [DOI] [PubMed] [Google Scholar]
- 23. Kinsler VA, Drury S, Khan A, et al. A novel microdeletion in LOR causing autosomal dominant loricrin keratoderma. Br J Dermatol. 2015;172(1):262‐264. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 24. Muñoz‐Aceituno E, Nogera‐Morel L, Torrelo A, Hernandez‐Martin A. Mild collodion baby as a presenting sign of loricrin keratoderma: report of a case and review of the literature. Clin Exp Dermatol. 2020;45(3):395‐398. [DOI] [PubMed] [Google Scholar]
- 25. Matsumoto K, Muto M, Seki S, et al. Loricrin keratoderma: A cause of congenital ichthyosiform erythroderma and collodion baby. Br J Dermatol. 2001;145(4):657‐660. [DOI] [PubMed] [Google Scholar]
- 26. Gedicke MM, Traupe H, Fischer B, Tinschert S, Hennies HC. Towards characterization of palmoplantar keratoderma caused by gain‐of‐function mutation in loricrin: Analysis of a family and review of the literature. Br J Dermatol. 2006;154(1):167‐171. [DOI] [PubMed] [Google Scholar]
- 27. Drera B, Tadini G, Balbo F, Marchese L, Barlati S, Colombi M. De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma [1]. Clin Genet. 2007;73(1):85‐88. [DOI] [PubMed] [Google Scholar]
- 28. Yeh JM, Yang MH, Chao SC. Collodion baby and loricrin keratoderma: A case report and mutation analysis. Clin Exp Dermatol. 2013;38(2):147‐150. [DOI] [PubMed] [Google Scholar]
- 29. Song S, Shen C, Song G, et al. A novel c.545‐546insG mutation in the loricrin gene correlates with a heterogeneous phenotype of loricrin keratoderma. Br J Dermatol. 2008;159(3):714‐719. [DOI] [PubMed] [Google Scholar]
- 30. Pohler E, Cunningham F, Sandilands A, et al. Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis. Br J Dermatol. 2015;173(5):1291‐1294. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 31. Khalil S, Daou L, Hayashi R, et al. Identification of a novel mutation in the LOR gene in an Iraqi patient with loricrin keratoderma resembling epidermolytic hyperkeratosis. J Eur Acad Dermatology Venereol. 2016;31(3):e142‐e144. [DOI] [PubMed] [Google Scholar]
- 32. Ishida‐Yamamoto A, McGrath JA, Lam HM, Iizuka H, Friedman RA, Christiano AM. The molecular pathology of progressive symmetric erythrokeratoderma: A frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope. Am J Hum Genet. 1997;61(3):581‐589. [DOI] [PMC free article] [PubMed] [Google Scholar]
Associated Data
This section collects any data citations, data availability statements, or supplementary materials included in this article.
Data Availability Statement
Data will be made available upon request.