Hereditary Leiomyomatosis and Renal Cell Carcinoma: Variant of Reed’s Syndrome - a Rare Case Report

Case Report

Austin J Clin Case Rep. 2016; 3(2): 1090.

Hereditary Leiomyomatosis and Renal Cell Carcinoma: Variant of Reed’s Syndrome - a Rare Case Report

Babu MB¹, Bansal D¹, Mehta N¹, Rathore R¹, Pillai B¹, Krishnamoorthy H¹* and Varghese J²

¹Department of Urology, Lourdes hospital, Kochi, Kerala, India

²Department of Pathology, Lourdes hospital, Kochi, Kerala, India

*Corresponding author: Krishnamoorthy H, Department of Urology, Lourdes hospital, Kochi, Ernakulum, 682012, Kerala, India

Received: April 15, 2016; Accepted: June 25, 2016; Published: July 02, 2016


Hereditary leiomyomatosis and renal cell carcinoma is an autosomal dominant condition associated with multiple cutaneous and uterine leiomyomas associated with renal cell carcinoma. This syndrome has been proposed to be a variant of Reed’s syndrome, which is also called as multiple cutaneous and uterine leiomyomatosis. Carcinomas in this syndrome tend to be more aggressive than the normal sporadic renal cell cancers. Urologists tend to miss out these skin lesions which can act as markers of underlying renal cell cancer. Similarly Dermatologists can ignore the screening of such patients with skin lesions for underlying renal carcinoma. In this article we present a case of hereditary leiomyomatosis and renal cell carcinoma, a variant of Reed’s syndrome.

Keywords: Cutaneous leiomyomas; Renal cell carcinoma; Reed’s syndrome; Uterine leiomyomas; Hereditary neoplasms


Reed’s syndrome, also known as multiple cutaneous and uterine leiomyomatosis (MCUL) or multiple leiomyomatosis or leiomyomatosis cutis et uteri, was first described by Reed and colleagues in 1973 [1]. This disease has autosomal dominant inheritance pattern. The syndrome is characterized by cutaneous leiomyomas in males and cutaneous leiomyomas with uterine leiomyomatosis in females. Affected females frequently develop uterine leiomyomas that are larger, more numerous and emerge earlier than those seen in the general population. A variant of Reed’s syndrome associated with renal cell carcinoma is known as hereditary leiomyomatosis and renal cell carcinoma (HLRCC) [2]. Both MCUL and HLRCC are caused by a heterozygous mutation in the fumarate hydratase gene (FH) located on chromosome 1q42.3-q43 [3].

Case Presentation

We report a case of 52 year old female who presented with incidentally detected right renal mass. She had history of slowly progressive multiple painful skin nodules over back, right arm and chest region from the age of 28 years. She had undergone abdominal hysterectomy at the age of 32 for multiple uterine fibroids and menorrhagia. Histopathology report was consistent with uterine leiomyoma. Her daughter aged 26 years was recently diagnosed to have multiple uterine fibroids with menstrual irregularities but did not have skin lesions. However, other family members were devoid of any cutaneous lesions or uterine symptoms.

On examination, patient had multiple brown to pink coloured nodules and papules (Figure 1) over her back, right arm, right shoulder and chest regions with mild local tenderness. CT Urogram (Figure 2) showed hypodense, contrast enhancing lesion of size 4.7×3.8 cm at the upper pole of right kidney extending upto hilum suggestive of renal cell carcinoma (RCC). She underwent right radical nephrectomy with biopsy of the skin nodules. Histopathology showed that the renal mass to be clear cell type of RCC with papillary architecture (Figure 3) and skin lesionwere confirmed to be cutaneous leiomyomas (Figure 4). Leiomyomas were further confirmed by immunohistochemistry (Desmin, Smooth Muscle Actin).