Nail deformity associated with hereditary multiple exostoses

Nail deformity associated with hereditary multiple exostoses

534 Letters J AM ACAD DERMATOL SEPTEMBER 2005 2. Ruocco V, Ruocco E, Ghersetich I, Bianchi B, Lotti T. Isotopic response after herpesvirus infection...

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534 Letters


2. Ruocco V, Ruocco E, Ghersetich I, Bianchi B, Lotti T. Isotopic response after herpesvirus infection: an update. J Am Acad Dermatol 2002;46:90-4. 3. Simon JC, Pfieger D, Schopf E. Recent advances in phototherapy. Eur J Dermatol 2000;10:642-5. 4. Tjioe M, Smits T, van de Kerkhof PC, Gerritsen MJ. The differential effect of broad band vs narrow band UVB with respect to photodamage and cutaneous inflammation. Exp Dermatol 2003;12:729-33. doi:10.1016/j.jaad.2005.02.022

Nail deformity associated with hereditary multiple exostoses

Fig 2. Clinical findings of disseminated GA before (A) and after (B) the narrowband UVB phototherapy.

been examined. This study is the first to show the efficacy of narrowband UVB for GA. Because narrowband UVB is more potent than broadband UVB in terms of suppression of lymphoproliferation and cytokine production,4 it may be widely applicable to various skin diseases. Shigeki Inui, MD, PhD Yoko Nishida, MD Satoshi Itami, MD, PhD Ichiro Katayama, MD, PhD Department of Dermatology Osaka University Graduate School of Medicine Osaka, Japan Correspondence to: Shigeki Inui, MD, PhD Department of Dermatology Osaka University Graduate School of Medicine 2-2, C5, Yamada-oka, Suita-shi Osaka 565-0871, Japan E-mail: [email protected]

REFERENCES 1. Wolf R, Brenner S, Ruocco V, Filioli FG. Isotopic response. Int J Dermatol 1995;34:341-8.

To the Editor: A 16-year-old Japanese female was referred to our hospital with a nail deformity associated with swelling and pain in her right index finger. She noticed the nail deformity 2 months prior to the visit and it had gradually worsened. Physical examination revealed a slight elevation of the proximal nail fold on her right index finger (Fig 1, A). She had been suffering from hereditary multiple exostoses (HME) and had received several operations since childhood. An radiograph of the finger revealed an exostosis of the distal phalanges (Fig 1, B). The exostosis of the finger was surgically removed resulting in regrowth of a normal nail several months later. HME, the most common type of benign bone tumor, is an autosomal dominant disorder with an estimated occurrence of 1 in 50,000 to 100,000 white patients.1 It is characterized by cartilage-capped tumors, known as osteochondromas or exostoses, which develop primarily on the long bones in affected individuals from early childhood until puberty. Compared to the general population, individuals with HME might have a significantly higher risk of developing subsequent malignancies, such as chondrosarcomas or osteosarcomas.1 Genetic linkage has identified three different loci for this disease: EXT1 on 8q24, EXT2 on 11p11-12, and EXT3 on 19p. Recent progress in the functional analyses disclosed that these genes encode EXT family proteins for glycosyltransferase enzymes involved in the heparan sulfate biosynthesis pathway.1 The EXT family proteins are putative tumor suppressor molecules and their defects might lead to abnormal diffusion of Hedgehog protein, resulting in bone tumor formation.2 Exostoses in HME usually occur in the long bones. Thus, nail deformities are rare. As far as we know, there have been only 3 reported cases of nail deformity associated with the HME patients.3-5 In these reported cases and in our case, there was no apparent difference in the presentation of acquired versus inherited exostoses when they cause nail

Letters 535


Early B-cell chronic lymphocytic leukemia presenting as cutaneous lesions with a normal peripheral blood lymphocyte count To the Editor: B-cell chronic lymphocytic leukemia (B-CLL) is similar to small lymphocytic lymphoma (SLL), having identical histopathologic and immunophenotypic features. However, a diagnosis of CLL requires a clonal population of typical morphology and immunophenotype in blood and bone marrow, even with normal lymphocyte counts.1 We report two cases of CLL presenting with only cutaneous infiltrates without lymphocytosis or lymphadenopathy.

CASE 1 Fig 1. A, A slight elevation of the proximal nail fold of the right index finger. B, Radiograph showing exostosis of the distal phalange.

deformity. It is important to include nail deformity as one of the manifestations of HME. Teruki Yanagi, MD Masashi Akiyama, MD, PhD Ken Arita, MD Hiroshi Shimizu, MD, PhD Department of Dermatology Hokkaido University Graduate School of Medicine Sapporo, Japan Reprint requests: Teruki Yanagi, MD Department of Dermatology Hokkaido University Graduate School of Medicine N15 W7, Kita-ku Sapporo 060-8638, Japan E-mail: [email protected]

REFERENCES 1. Duncan G, McCormick C, Tufaro F. The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins. J Clin Invest 2001;108:511-6. 2. Bellaiche Y, The I, Perrimon N. Tout-velu is a drosophila homologue of the putative tumour suppressor EXT-1 and is needed for Hh diffusion. Nature 1998;394:85-8. 3. Hazen PG, Smith DE. Hereditary multiple exostoses: report of a case presenting with proximal nail fold and nail swelling. J Am Acad Dermatol 1990;22:132-4. 4. Baran R, Bureau H. Multiple exostoses syndrome. J Am Acad Dermatol 1991;25:333-5. 5. Del-Rio R, Navarra E, Ferrando J, Mascaro JM. Multiple exostoses syndrome presenting as nail malalignment and longitudinal dystrophy of fingers. Arch Dermatol 1992;128:1655-6. doi:10.1016/j.jaad.2005.02.030

A 63-year-old woman presented with a 6-month history of hyperpigmentation and swelling around the second toe on her right foot. Biopsy of the lesion demonstrated features of SLL with transdermal infiltrates of small lymphocytes with partly cleaved nuclei (Fig 1, A). Immunoperoxidase staining was CD20 and CD23 positive with CD5/CD43 co-expression, cyclin D1 negative. Immunoglobulin heavy chain gene rearrangement by polymerase chain reaction (PCR) demonstrated a monoclonal band. Although her blood lymphocyte count was normal (3.5 3 109/L), blood film examination revealed small atypical lymphocytes with ‘‘smear cells,’’ suggestive of CLL. Bone marrow examination demonstrated nodular infiltrates of small, round lymphocytes accounting for 32% of nucleated cells (Fig 1, B). Flow cytometry of blood and marrow each demonstrated an identical clonal B-cell population typical of CLL expressing CD51, 102, 191, 201, 221, 231, 382, and FMC72 without light chain restriction. She was treated with oral chlorambucil daily with resolution of her lesions within 4 months. She remains in complete remission at 10 months.

CASE 2 A 75-year-old woman noticed erythematous patches and plaques developing on her back over an 18-month period. Nodules were noted over her left scapula, cheeks, and shoulders, up to 3 cm 3 3 cm in size (Fig 2) without lymphadenopathy. Plaque biopsies demonstrated atypical lymphoid infiltrates. T- and B-cell gene rearrangement studies demonstrated a monoclonal band for IgH gene. Bcl-2 and TCR gamma PCR studies were negative. Again, her lymphocyte count was normal. No atypical cells were identified on the blood smear. Bone marrow examination demonstrated a mild mature lymphocytosis (21%) with a monoclonal population of B-cells on flow cytometry. The trephine showed an