D
CP
CED
CPD • Clinicopathological case
Clinical and Experimental Dermatology
A cutaneous presentation of a rare condition S. Rasool, G. A. Johnston and M. Bamford Department of Dermatology, Leicester Royal Infirmary, Leicester, UK doi: 10.1111/ced.12240
Clinical findings A 76-year-old woman presented with an 8-month history of vulval and perineal itching and soreness. On physical examination, there was evidence of a low-grade erythema, with desquamation and erosions of the labia minora extending to the clitoral hood, and perianal lichenification and fissuring (Fig. 1a). During the following 18 months, the patient gradually developed itchy discrete papules on a background of erythema, localized to the upper chest (Fig. 1b). The patient was otherwise systemically well, and imaging investigations, including a skeletal survey and a computed tomography (CT) scan of the chest abdomen and pelvis, gave normal results. Full blood count showed monocytosis and mild normocytic anaemia. Bone-marrow aspirate was normal.
What is your diagnosis? (a)
(b)
Histopathological findings On histological examination of a vulval skin biopsy, histiocytic infiltration of the dermis and epidermis were seen. The abnormal cells stained positively with CD1a and CD68. Under electron microscopy, trilaminar structures of a size and morphology consistent with Birbeck granules were visible, although full profiles were not seen. A skin biopsy from the chest wall showed a superficial dermal infiltrate, mainly in the papillary dermis, with a mixed population of lymphocytes, occasional eosinophils, and clusters of cells with convoluted and grooved nuclei within the papillary dermis and the epidermis (Fig. 2). Immunohistochemical staining gave positive results with antibodies to CD1a and S100.
(c)
Correspondence: Dr Sarah Rasool, Department of Dermatology, Leicester Royal Infirmary, Leicester, LE1 5WW, UK E-mail: [email protected] Conflict of interest: none declared. Accepted for publication 17 June 2013
248
Clinical and Experimental Dermatology (2014) 39, pp248–249
Figure 1 (a) Vulval erythema and desquamation; (b, c) multiple
erythematous papules on the chest.
ª 2013 British Association of Dermatologists
D CP Clinicopathological case
Figure 2 Papillary dermal infiltrate of cells with irregular
nuclear outlines and nuclear grooves (haematoxylin and eosin, original magnification 9 20).
Diagnosis Genital Langerhans cell histiocytosis (LCH).
Discussion LCH occurs as a result of clonal proliferation of abnormal Langerhans-like cells. These infiltrating cells are not morphologically dendritic; however, similar to normal skin Langerhans cells, they express CD1a antigen and S-100 protein, and contain cytoplasmic Birbeck granules.1 It is estimated that the incidence of LCH in the adult population is 1–2 per million. The clinical presentation is variable, ranging from single to multisystem disease. Cutaneous involvement, alone or as part of systemic disease, is rare in the adult population, and may represent a limited form of LCH or precede the onset of multisystem disease. Cutaneous findings may be localized or generalized, and include soft-tissue swelling, seborrhoeic dermatitis-like papules, pustular lesions, erosions and ulcerations. The most frequently involved sites include the scalp, trunk, intertriginous areas, glabrous skin and anogenital tract, which has been recognized in both sexes. Genital skin involvement is more common in women than in men, and the vulva is the most common site of involvement in the female genital tract.2–4 The histopathological changes seen in LCH include dermal infiltration by characteristic Langerhans-like cells. Birbeck granules are rod-shaped or ‘tennis racket’-shaped cytoplasmic organelles that are specific to Langerhans cells, and may be detected under electron microscopy. The current standard for diagnosis of LCH is a lesion that is morphologically appropriate for
ª 2013 British Association of Dermatologists
the disease, in which lesional cells are positive for CD1a and/or CD207 (langerin). The presence of langerin confirms the presence of Birbeck granules, therefore the previous gold standard of diagnosis, namely, identification of cytoplasmic Birbeck granules under electron microscopy, is no longer required. In addition to CD1a and langerin, other histiocyte-related markers include CD68 and S100 protein, which may also be detected by immunostaining. The prognosis of cutaneous limited LCH is good, and treatment varies depending on the presentation of the disease. Localized lesions can be treated by surgical excision, topical or intralesional steroids, topical tacrolimus, imiquimod or PUVA (psoralen and ultraviolet A).5,6 Our patient was treated successively with topical DermovateTM ointment.
Learning points
•
Adult LCH is a rare disease with a broad spectrum of clinical presentations. • Evaluation for systemic disease in any patient with cutaneous LCH is essential. • Cutaneous disease has a good prognosis, and may be treated effectively by surgical or medical means. • Long-term follow-up for detection of systemic involvement or relapse is required.
References 1 Willman CL. Detection of clonal histiocytes in Langerhans cell histiocytosis: biology and clinical significance. Br J Cancer (Suppl) 1994; 23: 29–33. 2 Singh A, Prieto VG, Czelusta A, McClain KL, Duvic M. Adult Langerhans cell histiocytosis limited to the skin. Dermatology 2003; 207: 157–61. 3 Axiotis CA, Merino MJ, Duray PH. Langerhans cell histiocytosis of the female genital tract. Cancer 1991; 67: 1650–60. 4 Wolff K, Johnson RA. Fitzpatrick’s Colour Atlas and Synopsis of Clinical Dermatology. 6th edn. New York: McGraw Hill, 2009. 5 Histiocyte Society. Langerhans cell histiocytosis. Histiocyte Society evaluation and treatment guidelines. 2009 http:// www.hematologie-amc.nl. 6 El-Safadi S, Dreyer T, Oehmke F, Muenstedt K. Management of adult primary vulvar Langerhans cell histiocytosis: review of literature and a case history. Eur J Obstet Gynaecol Reprod Biol 2012; 163: 123–8.
Clinical and Experimental Dermatology (2014) 39, pp248–249
249
CP
CED
CPD • Clinicopathological case
Clinical and Experimental Dermatology
A cutaneous presentation of a rare condition S. Rasool, G. A. Johnston and M. Bamford Department of Dermatology, Leicester Royal Infirmary, Leicester, UK doi: 10.1111/ced.12240
Clinical findings A 76-year-old woman presented with an 8-month history of vulval and perineal itching and soreness. On physical examination, there was evidence of a low-grade erythema, with desquamation and erosions of the labia minora extending to the clitoral hood, and perianal lichenification and fissuring (Fig. 1a). During the following 18 months, the patient gradually developed itchy discrete papules on a background of erythema, localized to the upper chest (Fig. 1b). The patient was otherwise systemically well, and imaging investigations, including a skeletal survey and a computed tomography (CT) scan of the chest abdomen and pelvis, gave normal results. Full blood count showed monocytosis and mild normocytic anaemia. Bone-marrow aspirate was normal.
What is your diagnosis? (a)
(b)
Histopathological findings On histological examination of a vulval skin biopsy, histiocytic infiltration of the dermis and epidermis were seen. The abnormal cells stained positively with CD1a and CD68. Under electron microscopy, trilaminar structures of a size and morphology consistent with Birbeck granules were visible, although full profiles were not seen. A skin biopsy from the chest wall showed a superficial dermal infiltrate, mainly in the papillary dermis, with a mixed population of lymphocytes, occasional eosinophils, and clusters of cells with convoluted and grooved nuclei within the papillary dermis and the epidermis (Fig. 2). Immunohistochemical staining gave positive results with antibodies to CD1a and S100.
(c)
Correspondence: Dr Sarah Rasool, Department of Dermatology, Leicester Royal Infirmary, Leicester, LE1 5WW, UK E-mail: [email protected] Conflict of interest: none declared. Accepted for publication 17 June 2013
248
Clinical and Experimental Dermatology (2014) 39, pp248–249
Figure 1 (a) Vulval erythema and desquamation; (b, c) multiple
erythematous papules on the chest.
ª 2013 British Association of Dermatologists
D CP Clinicopathological case
Figure 2 Papillary dermal infiltrate of cells with irregular
nuclear outlines and nuclear grooves (haematoxylin and eosin, original magnification 9 20).
Diagnosis Genital Langerhans cell histiocytosis (LCH).
Discussion LCH occurs as a result of clonal proliferation of abnormal Langerhans-like cells. These infiltrating cells are not morphologically dendritic; however, similar to normal skin Langerhans cells, they express CD1a antigen and S-100 protein, and contain cytoplasmic Birbeck granules.1 It is estimated that the incidence of LCH in the adult population is 1–2 per million. The clinical presentation is variable, ranging from single to multisystem disease. Cutaneous involvement, alone or as part of systemic disease, is rare in the adult population, and may represent a limited form of LCH or precede the onset of multisystem disease. Cutaneous findings may be localized or generalized, and include soft-tissue swelling, seborrhoeic dermatitis-like papules, pustular lesions, erosions and ulcerations. The most frequently involved sites include the scalp, trunk, intertriginous areas, glabrous skin and anogenital tract, which has been recognized in both sexes. Genital skin involvement is more common in women than in men, and the vulva is the most common site of involvement in the female genital tract.2–4 The histopathological changes seen in LCH include dermal infiltration by characteristic Langerhans-like cells. Birbeck granules are rod-shaped or ‘tennis racket’-shaped cytoplasmic organelles that are specific to Langerhans cells, and may be detected under electron microscopy. The current standard for diagnosis of LCH is a lesion that is morphologically appropriate for
ª 2013 British Association of Dermatologists
the disease, in which lesional cells are positive for CD1a and/or CD207 (langerin). The presence of langerin confirms the presence of Birbeck granules, therefore the previous gold standard of diagnosis, namely, identification of cytoplasmic Birbeck granules under electron microscopy, is no longer required. In addition to CD1a and langerin, other histiocyte-related markers include CD68 and S100 protein, which may also be detected by immunostaining. The prognosis of cutaneous limited LCH is good, and treatment varies depending on the presentation of the disease. Localized lesions can be treated by surgical excision, topical or intralesional steroids, topical tacrolimus, imiquimod or PUVA (psoralen and ultraviolet A).5,6 Our patient was treated successively with topical DermovateTM ointment.
Learning points
•
Adult LCH is a rare disease with a broad spectrum of clinical presentations. • Evaluation for systemic disease in any patient with cutaneous LCH is essential. • Cutaneous disease has a good prognosis, and may be treated effectively by surgical or medical means. • Long-term follow-up for detection of systemic involvement or relapse is required.
References 1 Willman CL. Detection of clonal histiocytes in Langerhans cell histiocytosis: biology and clinical significance. Br J Cancer (Suppl) 1994; 23: 29–33. 2 Singh A, Prieto VG, Czelusta A, McClain KL, Duvic M. Adult Langerhans cell histiocytosis limited to the skin. Dermatology 2003; 207: 157–61. 3 Axiotis CA, Merino MJ, Duray PH. Langerhans cell histiocytosis of the female genital tract. Cancer 1991; 67: 1650–60. 4 Wolff K, Johnson RA. Fitzpatrick’s Colour Atlas and Synopsis of Clinical Dermatology. 6th edn. New York: McGraw Hill, 2009. 5 Histiocyte Society. Langerhans cell histiocytosis. Histiocyte Society evaluation and treatment guidelines. 2009 http:// www.hematologie-amc.nl. 6 El-Safadi S, Dreyer T, Oehmke F, Muenstedt K. Management of adult primary vulvar Langerhans cell histiocytosis: review of literature and a case history. Eur J Obstet Gynaecol Reprod Biol 2012; 163: 123–8.
Clinical and Experimental Dermatology (2014) 39, pp248–249
249
