Two Cases of Segmental Multiple Glomangiomas in a Family: Type 1 or Type 2 Segmental Manifestation?

Abstract

Several autosomal dominant skin diseases may manifest cutaneous mosaicism. Two types of segmental arrangement can be distinguished: type 1 is characterized by segmental lesions with similar severity to that observed in the diffuse phenotype, the remaining skin being normal; type 2 is characterized by segmental lesions showing a major degree of severity and milder lesions diffusely arranged. Multiple glomus tumours have recently been included in the group of genodermatoses showing type 2 segmental involvement. A family with 2 cases of multiple glomangiomas arranged in a segmental fashion is reported. A 12-year-old girl presented multiple nodular glomangiomas on her right buttock and thigh, in a band-like distribution. A sister of her paternal grandfather showed plaque-like multiple glomangiomas on her left thigh and various glomangiomas on her right buttock and arm. No other family members were known to be affected. Two new cases of familial segmental multiple glomangiomas are reported, with the particularity that one of these exhibited type 2 segmental manifestation and the other type 1 from a clinical point of view.

Evidence for a New Fumarate Hydratase Gene Mutation in a Unilateral Type 2 Segmental Leiomyomatosis

“…A similar segmental involvement has already been described in MCUL [14,16], as well as in other skin conditions [17,18,19,20,21,22,23,24,25]. The type 2 is likely to reflect a second mutational event leading to loss of heterozygosity in a heterozygous embryo.…”

Type 2 Segmental Manifestation of Congenital Multiple Glomangiomas

“…A positive family history, not found in our observation, is present in 60% of cases [1]. CMGTs are extremely rare, and less than 20 cases have been well documented [5, 6, 7, 8, 9, 10, 11, 12]. Our case is an uncommon example of congenital glomangiomas which, moreover, occurred sporadically.…”

“…Seven case reports of CMGT with a type 2 segmental involvement have been so far recorded in the world literature [6, 8, 10, 11, 12]. In the majority of cases, congenital lesions showed a unilateral distribution whereas tumors developed later in time were disseminated smaller nodules based on the phenotype (table 1).…”

Congenital nodular multiple glomangioma: a case report

“…In 2000, Pena-Penabad et al reported two cases of familial multiple glomangiomas, but the lesions were not present from birth in the first patient and the second patient presented for consultation as an elderly adult. 5 There have been several papers describing glomangiomas in the knee region, 6-9 but all four papers describe a solitary tumour, which is different from the multiple type reported here. Clinically, glomangiomas appear as red to blue compressible papulonodules.…”