MEDICAL IMAGES
Multiple Painful Nodules and Uterine Leiomyomas Pablo Fernández-Crehuet Serrano, MD, PhD, and Ricardo Ruiz-Villaverde, MD, PhD
A
58-year-old woman, who had undergone a hysterectomy because of multiple uterine leiomyomas, presented with multiple painful indurated, erythematous papules and nodules on her back and both shoulders (Figures 1 and 2). Her sister, 2 aunts, and her mother also had uterine leiomyomas, and a cousin had the same kind of cutaneous lesions. Routine blood tests, including full blood cell count, urea and electrolyte levels, and urine sediment level, were within reference ranges, and an abdominal ultrasound showed a simple 7 6 cm cystin the upper pole of the right kidney. Hematoxylin-eosin staining showed the presence of a nonencapsulated dermal tumor composed of interweaving fascicles of spindle cells with eosinophilic cytoplasm and elongated nuclei without atypia and mitosis (Supplemental Figure, available online at http://www.mayo clinicproceedings.org). Cutaneous and uterine leiomyomatosis (Reed syndrome) was diagnosed. Most bothersome lesions were surgically removed, and the associated pain was partially inhibited with gabapentin 300 mg twice daily. The basic cutaneous manifestation of Reed syndrome is the presence of leiomyomas, with piloleiomyoma being the most common type.1 Papillar renal cell carcinoma
may be associated with familial cases of this entity.2 Both variants result from heterozygous mutations in the germline 1q42.3.-43 gene encoding fumarate hydratase, which plays a role as a tumor suppressor gene.3 Malignant transformation occurs exceptionally in familial cases.3,4 Seventy percent of women with mutations of fumarate hydratase and 90% of those diagnosed with Reed syndrome have uterine leiomyomas. The latter usually occur at a younger age and are larger and more numerous than those diagnosed in the general population. These patients may develop severe symptoms such as pelvic pain and menorrhagia, which may lead to an early hysterectomy before the age of 30 years.
FIGURE 1. Ultrasonography image of patient’s uterine fibroid tumors.
FIGURE 2. Multiple painful indurated and erythematous papules on shoulders.
From the Dermatology Department, Alto Guadalquivir Hospital, Andújar (Jaén), Spain (P.F.-C.S.); and Dermatology Department, Virgen de las Nieves Hospital, Granada, Spain (R.R.-V.).
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SUPPLEMENTAL ONLINE MATERIAL Supplemental material can be found online at http://www.mayoclinicproceedings.org.
Mayo Clin Proc. n March 2015;90(3):423-424 n http://dx.doi.org/10.1016/j.mayocp.2014.07.022 www.mayoclinicproceedings.org n ª 2015 Mayo Foundation for Medical Education and Research
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MAYO CLINIC PROCEEDINGS
Correspondence: Address to Pablo Fernández-Crehuet Serrano, MD, PhD, Alto Guadalquivir Hospital, Avenida Blas Infante s/n 23740, Andújar (Jaén), Spain (pablocrehuet@ hotmail.com).
1. Reed WB, Walker R, Horowitz R. Cutaneous leiomyomata with uterine leiomyomata. Acta Derm Venereol. 1973;53(5): 409-416.
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Mayo Clin Proc.
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2. Launonen V, Vierimaa O, Kiuru M, et al. Inherited susceptibility to uterine leiomyomas and renal cell cancer. Proc Natl Acad Sci U S A. 2001;98(6):3387-3392. 3. Chuang GS, Martınez-Mir A, Geyer A, et al. Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata. J Am Acad Dermatol. 2005;52(3, Pt 1):410-416. 4. Badeloe S, Frank J. Clinical and molecular genetic aspects of hereditary multiple cutaneous leiomyomatosis. Eur J Dermatol. 2009;19(6):545-551.
March 2015;90(3):423-424
n
http://dx.doi.org/10.1016/j.mayocp.2014.07.022 www.mayoclinicproceedings.org
Multiple Painful Nodules and Uterine Leiomyomas Pablo Fernández-Crehuet Serrano, MD, PhD, and Ricardo Ruiz-Villaverde, MD, PhD
A
58-year-old woman, who had undergone a hysterectomy because of multiple uterine leiomyomas, presented with multiple painful indurated, erythematous papules and nodules on her back and both shoulders (Figures 1 and 2). Her sister, 2 aunts, and her mother also had uterine leiomyomas, and a cousin had the same kind of cutaneous lesions. Routine blood tests, including full blood cell count, urea and electrolyte levels, and urine sediment level, were within reference ranges, and an abdominal ultrasound showed a simple 7 6 cm cystin the upper pole of the right kidney. Hematoxylin-eosin staining showed the presence of a nonencapsulated dermal tumor composed of interweaving fascicles of spindle cells with eosinophilic cytoplasm and elongated nuclei without atypia and mitosis (Supplemental Figure, available online at http://www.mayo clinicproceedings.org). Cutaneous and uterine leiomyomatosis (Reed syndrome) was diagnosed. Most bothersome lesions were surgically removed, and the associated pain was partially inhibited with gabapentin 300 mg twice daily. The basic cutaneous manifestation of Reed syndrome is the presence of leiomyomas, with piloleiomyoma being the most common type.1 Papillar renal cell carcinoma
may be associated with familial cases of this entity.2 Both variants result from heterozygous mutations in the germline 1q42.3.-43 gene encoding fumarate hydratase, which plays a role as a tumor suppressor gene.3 Malignant transformation occurs exceptionally in familial cases.3,4 Seventy percent of women with mutations of fumarate hydratase and 90% of those diagnosed with Reed syndrome have uterine leiomyomas. The latter usually occur at a younger age and are larger and more numerous than those diagnosed in the general population. These patients may develop severe symptoms such as pelvic pain and menorrhagia, which may lead to an early hysterectomy before the age of 30 years.
FIGURE 1. Ultrasonography image of patient’s uterine fibroid tumors.
FIGURE 2. Multiple painful indurated and erythematous papules on shoulders.
From the Dermatology Department, Alto Guadalquivir Hospital, Andújar (Jaén), Spain (P.F.-C.S.); and Dermatology Department, Virgen de las Nieves Hospital, Granada, Spain (R.R.-V.).
Scan code to view additional images
SUPPLEMENTAL ONLINE MATERIAL Supplemental material can be found online at http://www.mayoclinicproceedings.org.
Mayo Clin Proc. n March 2015;90(3):423-424 n http://dx.doi.org/10.1016/j.mayocp.2014.07.022 www.mayoclinicproceedings.org n ª 2015 Mayo Foundation for Medical Education and Research
423
MAYO CLINIC PROCEEDINGS
Correspondence: Address to Pablo Fernández-Crehuet Serrano, MD, PhD, Alto Guadalquivir Hospital, Avenida Blas Infante s/n 23740, Andújar (Jaén), Spain (pablocrehuet@ hotmail.com).
1. Reed WB, Walker R, Horowitz R. Cutaneous leiomyomata with uterine leiomyomata. Acta Derm Venereol. 1973;53(5): 409-416.
424
Mayo Clin Proc.
n
2. Launonen V, Vierimaa O, Kiuru M, et al. Inherited susceptibility to uterine leiomyomas and renal cell cancer. Proc Natl Acad Sci U S A. 2001;98(6):3387-3392. 3. Chuang GS, Martınez-Mir A, Geyer A, et al. Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata. J Am Acad Dermatol. 2005;52(3, Pt 1):410-416. 4. Badeloe S, Frank J. Clinical and molecular genetic aspects of hereditary multiple cutaneous leiomyomatosis. Eur J Dermatol. 2009;19(6):545-551.
March 2015;90(3):423-424
n
http://dx.doi.org/10.1016/j.mayocp.2014.07.022 www.mayoclinicproceedings.org
