[3] The uterine fibroids tend to occur at younger age and are larger and more numerous than in the general population.

They may be distinguishable from sporadic fibroids by special histological features such as prominent nucleoli with perinucleolar halos.

[4] The skin presentation is of asymmetrical, reddish-brown nodules or papules with a firm consistency, predominantly located on the limbs (multiple cutaneous leiomyoma), although they may occur anywhere, including the face.

[8][9] A case of cutis verticis gyrata, disseminated collagenoma and Charcot–Marie–Tooth disease in association with a mutation in the fumarate hydratase gene has also been reported.

[11] HLRCC is an autosomal dominant condition caused by a mutation in the FH gene, which results in dysfunction of the citric acid cycle, leading to an accumulation of fumarate.

While the pathogenetic mechanisms underlying the lesions remain unclear, it has been suggested that the accumulation of fumarate may lead to overexpression of the aldo-keto reductase enzyme, AKR1B10.

Other skin lesions that may need to be considered include cylindroma, lipoma, poroma and trichoepithelioma; these tend to be painless and have other useful distinguishing features.

Drugs which affect smooth muscle contraction, such as doxazosin, nitroglycerine, nifedipine and phenoxybenzamine, may provide pain relief.

Substantially elevated risk of progression to or independent development of uterine leiomyosarcoma has been reported which may influence treatment methods.

Topical lidocaine patches have been reported to decrease the severity and frequency of pain associated with cutaneous leiomyomas.

[21] Autosomal recessive mutations cause a serious neurological disease known as fumarase deficiency, which is associated with a variety of congenital lesions in the brain.