Secondary Pseudoainhum in a Patient With Turner Syndrome

CASE REPORT Secondary Pseudoainhum in a Patient With Turner Syndrome Brady S. Davis, OMS IV Scott Harris, DO Mitchell D. Forman, DO Report of Case From the Touro University Secondary pseudoainhum is an autoam- A 44-year-old white woman with Turner syndrome putation that develops in individuals aged (45,X) presented for a routine rheumatologic examina- in Henderson. approximately 20 to 50 years and is caused tion for episodic oligoarthritis in her right ankle. A Financial Disclosures: by diseases such as keratodermas, trauma, or complete medical history and physical examination re- None reported. congenital factors. The authors report a novel vealed bilateral lower extremity toe lesions. Her left Support: None reported. case of secondary pseudoainhum in a patient second and third, and her right second, third, and fourth with Turner syndrome (45,X) who presented toes demonstrated linear bandlike constrictions be- Address correspondence to Brady S. Davis, OMS IV, with bandlike constrictions in the toes bilat- Nevada College of Osteopathic Medicine 874 American Pacific Dr, erally. To the authors’ knowledge, secondary Henderson, NV 89014-8800 pseudoainhum has not been reported to be E-mail: do14.brady.davis @nv.touro.edu associated with Turner syndrome. However, physicians should be aware of this potential- Submitted October 18, 2013; revision received ly deforming disease in patients with Turner syndrome. accepted with grade I pseudoainhum. The toes were warm, nontender, and had good capillary refill. There was no clinical evidence to suggest peripheral vascular disease. The patient could not recall how long the painless, asymptomatic lesions had been present. She reported no trauma to the toes or feet. Notably, the patient did not have a family history of March 31, 2014; April 25, 2014. tween the interphalangeal joints (Figure) consistent J Am Osteopath Assoc. 2014;114(10):806-808 constricting bands, ainhum, or pseudoainhum. She had doi:10.7556/jaoa.2014.155 diffuse xerotic eczema. Medications included daily Protandim, multivitamin, 1000 mg of L-arginine, and 100 mg of celecoxib, as well as approximately 500 mg seudoainhum comprises rare manifestations of P of acetaminophen per week. She did not smoke ciga- bandlike constrictions around the trunk, limbs, rettes. Pertinent examination findings included episodic or digits, and it may result in autoamputation oligoarthritis without any objective evidence of a sys- of the affected part. While ainhum is limited to the toes temic inflammatory disorder or arthropathy and right and is most often found in patients of African descent, first metacarpophalangeal subluxation and short digits. pseudoainhum strikes a population defined by broader No synovitis, clubbing, nail pitting, or onycholysis were demographic characteristics.1 observed, and she was able to clench her fists. Known causes of pseudoainhum include kerato- Complete blood cell count, complete metabolic pro- dermas, such as leprosy, psoriasis, Vohwinkel syn- file, rheumatoid factor, anti–cyclic citrullinated peptide drome, Mal de Meleda disease, Papillon-Lefevre antibodies, antinuclear antibody, and uric acid laboratory syndrome, Clouston syndrome, and congenital ainhum, test results were within normal limits. Because the inci- as well as trauma. Usually these patients are between dental toe findings were asymptomatic, an approach to the ages of 20 and 50 years at presentation and the le- resolution was not considered. However, her chief com- 2,3 1 sions arise on the digits of the hands or feet. Few re- plaint of oligoarthritis in the right ankle was addressed ports exist on the best treatment method. If left and recommendations made. The differential diagnosis untreated, the affected digit may autoamputate in 5 to included systemic inflammatory arthropathy, reactive 10 years.1 arthritis, osteoarthritis, and crystal disease. She was ad- We present the case of a 44-year-old woman with vised to continue taking celecoxib and was prescribed Turner syndrome and secondary pseudoainhum discov- orthopedic shoes. Follow-up care was recommended on ered incidentally during a routine examination. an as-needed basis. 806 Downloaded from https://jaoa.org by guest on 05/31/2020 The Journal of the American Osteopathic Association October 2014 | Vol 114 | No. 10 CASE REPORT Discussion The terminology for ainhum has been varied in the past, but efforts have been made to categorize the different types. For example, primary pseudoainhum is a congenital autoamputation that is not restricted to the digits, and secondary pseudoainhum has been defined as autoamputation that develops in adults aged 20 to 50 years and is caused by keratodermas or trauma or can be congenital.1 Often, ainhum is termed dactylolysis spontanea and is limited to the fifth toe. Most common among persons of African descent, ainhum is likely triggered by trauma, which induces the formation of a constricting band that grossly limits circulation, resulting in autoamputation. Histologically, ainhum resembles vegetative foreign body granulomas.5 We suspect that pseudoainhum manifests the same granulomatous histologic findings. Figure. Grade 1 secondary pseudoainhum showing linear bandlike constrictions between the interphalangeal joints of her left second and third toes and her right second, third, and fourth toes. Our patient had grade I pseudoainhum, which indicates the appearance of a groove of constricting soft patients with Turner syndrome have a greater number of tissue but without symptoms. Grade II is ulceration of the benign melanocytic nevi, with a prevalence of up to floor of the groove; grade III, bony erosion, and grade IV, 70%.11 An increased number of melanocytic nevi is the strongest risk factor for melanoma.12 Other dermatologic 1 spontaneous amputation. To our knowledge, pseudoainhum has not been re- manifestations include premature aging of facial skin, ported in patients with Turner syndrome. A common ge- decreased prevalence of acne vulgaris, and an increased netic disorder in women (1 in 2500),6 Turner syndrome is number of café au lait macules.13,14 caused by X-chromosome monosomy, mosaicism for A few nonautoimmune manifestations exist. Patients X-chromosome monosomy, or structurally abnormal with Turner syndrome are exceptionally prone to lymph- second X chromosomes, and it affects many organ sys- edema and pterygium coli (webbing of the neck), theo- tems.7 Patients with Turner syndrome classically develop rized to stem from lymphatic hypoplasia in the subcutis a triad of short stature, impaired sexual development, and resulting from developmental failure of connections be- infertility.8 They also manifest osteoporosis (linked to tween the venous and lymphatic system.10 decreased estrogen), cardiovascular disease (usually Perhaps the link between Turner syndrome and sec- seen as left-sided heart anomalies), sensorineural hearing ondary pseudoainhum is the increased likelihood of ke- loss, and a variety of autoimmune disorders such as hy- loids and hypertrophic scarring.15 Trauma to the area pothyroidism, early-onset insulin resistance, and inflam- could lead to a hypertrophic scar and thus the banding matory bowel disease. and constricting phenomena seen in secondary pseudoai- Some dermatologic disorders have been linked to Turner syndrome. Most dermatologic symptoms are sequelae of autoimmunity, including vitiligo, alopecia 9 areata, and psoriatic arthritis. For unknown reasons, The Journal of the American Osteopathic Association nhum. It is possible that the patient described in the current report incurred an unknown trauma to the toes. Another hypothetical link between Turner syndrome and secondary pseudoainhum lies in the intrinsic autoim- October 2014 | Vol 114 | No. 10 Downloaded from https://jaoa.org by guest on 05/31/2020 807 CASE REPORT munity seen in Turner syndrome. One study linked auto- 4. Ainhum. In: James WD, Berger TG, Elston DM. Andrews’ Diseases of the Skin: Clinical Dermatology. 11th ed. London, England: Elsevier; 2011:597-598. 5. Warter A, Audouin J, Sekou H. Spontaneous dactylolysis or ainhum. Histopathologic study [article in French]. Ann Pathol. 1988;8(4-5):305-310. 6. Handler MZ, Derrick KM, Lutz RE, Morrell DS, Davenport ML, Armstrong AW. Prevalence of pilomatricoma in Turner syndrome findings from a multicenter study. JAMA Dermatol. 2013;149(5):559-564. doi:10.1001/2013.jamadermatol.115. 7. Rapaport R. Disorders of the gonads. In: Kliegman RM, Behrman RE, Jenson HB, Stanton B, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, PA: Saunders Elsevier; 2007:2374-2384. 8. Chacko E, Graber E, Regelmann MO, Wallach E, Costin G, Rapaport R. Update on Turner and Noonan syndromes. Endocrinol Metab Clin North Am. 2012;41(4):713-734. doi:10.1016/j.ecl.2012.08.007. 9. Lowenstein EJ, Kim KH, Glick SA. Turner’s syndrome in dermatology [review]. J Am Acad Dermatol. 2004;50(5):767-776. doi:10.1016/j.jaad.2003.07.031. immunity to the formation of keloids and hypertrophic scars, stating that an increased number of immunoglobulins in the affected tissue suggest an abnormal immune reaction.16 It is possible that mechanical stretch and tension in the toes overstimulated collagen production—a result of abnormal epithelial-mesenchymal interactions.17 The best treatment for patients with pseudoainhum has been debated. There are a few common therapeutic techniques, including skin grafting and Z-plasty. Most commonly, patients undergo a procedure to release the constricting band using a Z-plasty technique. This surgical technique is associated with relief of pseudoainhum after 18 months.2 Although Z-plasty remains an option for these patients, managing secondary pseudoainhum as a keloid could yield promising results. Treatment methods range from classic (eg, intralesional corticosteroids) to novel techniques, including topical imiquimod, topical reti- 10. von Kaisenberg CS, Nicolaides KH, Wilting J, et al. Lymphatic vessel hypoplasia in fetuses with Turner syndrome. Hum Reprod. 1999;14(3):823-826. 11. Becker B, Jospe N, Goldsmith LA. Melanocytic nevi in Turner syndrome. Pediatr Dermatol. 1994;11(2):120-124. noids, and intralesional fluorouracil.18 12. Grob JJ, Gouvernet J, Aymar D, et al. Count of benign melanocytic nevi as a major indicator of risk for nonfamilial nodular and superficial spreading melanoma. Cancer. 1990;66(2):387-395. Conclusion 13. Landau M, Krafchik B. The diagnostic value of café-au-lait macules. J Am Acad Dermatol. 1999;40(6):877-890. Secondary pseudoainhum is a rare disease previously unassociated with Turner syndrome. Physicians should be aware of this potentially deforming disease in patients with Turner syndrome or the conditions listed previously. The nature, frequency, and strength of this newly reported association needs to be further explored. 14. Harper JL. Genetics and genodermatoses. In: Rook A, Wilkinson D, Ebling F, Champion R, Burton J, eds. Textbook of Dermatology. Oxford, England: Blackwell Science; 1998:375-376. 15. Lemli L, Smith DW. The XO syndrome: a study of the differentiated phenotype in 25 patients. J Pediatr. 1963;63:577-588. doi:10.1016/S0022-3476(63)80368-6. 16. Schneider M, Meites E, Daane SP. Keloids: which treatment is best for your patient? J Fam Pract. 2013;62(5):227-233. References 1. Rashid RM, Cowan E, Abbasi SA, Brieva J, Alam M. Destructive deformation of the digits with auto-amputation: a review of pseudo-ainhum. J Eur Acad Dermatol Venereol. 2007;21(6):732-737. doi:10.1111/j.1468-3083.2007.02224.x. 2. Bassetto F, Franco C, Sferrazza R, et al. Vohwinkel syndrome: treatment of pseudo-ainhum. Int J Dermatol. 2010;49(1):79-82. doi:10.1111/j.1365-4632.2009.04267.x. 3. Jain K, Jain VK, Aggarwal K, et al. Clouston syndrome associated with severe congenital pseudo-ainhum. Pediatr Dermatol. 2007;24(3):342-344. doi:10.1111/j.1525-1470.2007.00429.x. 808 Downloaded from https://jaoa.org by guest on 05/31/2020 17. Ogawa R. Keloid and hypertrophic scarring may result from a mechanoreceptor or mechanosensitive nociceptor disorder. Med Hypotheses. 2008;71(4):493-500. doi:10.1016/j.mehy.2008.05.020. 18. Al Attar A, Mess S, Thomassen JM, et al. Keloid pathogenesis and treatment [review]. Plast Reconstr Surg. 2006;117(1):286-300. doi:10.1097/01.prs.0000195073.73580.46. © 2014 American Osteopathic Association The Journal of the American Osteopathic Association October 2014 | Vol 114 | No. 10