Supernumerary nipples–uropathies–Becker's nevus syndrome

Overview

Supernumerary nipples–uropathies–Becker's nevus syndrome is a rare and complex multisystem disorder characterized by the presence of extra nipples (supernumerary nipples), congenital anomalies of the urinary tract (uropathies), and Becker's nevus—a benign pigmented skin lesion. This syndrome represents a unique constellation of dermatological and urological abnormalities that may also be associated with musculoskeletal and other systemic findings.

Due to its rarity, clinical recognition is limited and diagnosis requires a multidisciplinary approach involving dermatology, nephrology, and genetics specialists.

Causes

The exact cause of this syndrome is not well understood, but it is believed to result from developmental abnormalities during embryogenesis affecting ectodermal and mesodermal tissues. Genetic mutations or disruptions in signaling pathways involved in skin and urinary tract development may contribute. There is no clear pattern of inheritance established, and most cases appear sporadic.

Symptoms

The syndrome typically manifests with the following clinical features:

• Supernumerary nipples: One or more additional nipples located along the "milk lines," usually smaller and often mistaken for skin tags.

• Becker's nevus: A large, unilateral, hyperpigmented patch of skin often associated with increased hair growth (hypertrichosis), typically appearing during adolescence.

• Uropathies: Congenital anomalies of the urinary tract such as renal agenesis, hypoplasia, vesicoureteral reflux, or ureteral abnormalities leading to urinary tract infections or impaired renal function.

• Musculoskeletal anomalies: Occasionally, scoliosis or other skeletal deformities may be present.

• Other possible features: Skin and soft tissue irregularities, delayed growth, or developmental delays have been reported in isolated cases.

Diagnosis

Diagnosis involves careful clinical evaluation and investigations including:

• Physical examination: Identification of supernumerary nipples and characteristic Becker's nevus lesions.

• Dermatological assessment: Dermoscopy or biopsy may be performed to confirm Becker's nevus.

• Imaging studies: Renal ultrasound, voiding cystourethrogram, or MRI to detect urological anomalies.

• Laboratory tests: Renal function tests to assess kidney involvement.

• Genetic counseling: Considered to evaluate possible hereditary patterns and provide family guidance.

Treatment

Treatment is symptomatic and multidisciplinary, focusing on managing the individual components of the syndrome:

• Urological management: Monitoring and treating urinary tract anomalies, infections, or renal impairment.

• Dermatological care: Laser therapy or cosmetic treatments for Becker's nevus if desired.

• Orthopedic interventions: For musculoskeletal abnormalities as needed.

• Supportive care: Regular follow-up with specialists to monitor growth and development.

• Psychosocial support: Counseling to address cosmetic concerns and quality of life issues.

Prognosis

The prognosis varies depending on the severity of urological involvement and associated complications. Many patients with mild uropathies and limited skin involvement have a good outcome with proper management. However, significant renal anomalies may lead to chronic kidney disease or other complications.

Early diagnosis and coordinated care are essential to optimize health outcomes and improve quality of life in individuals with this syndrome.