Type 2 Segmental Manifestation of Congenital Multiple Glomangiomas

Abstract

Congenital multiple glomus tumors are extremely rare, and less than 20 cases have been well documented. We report an uncommon case of congenital multiple glomangiomas with a segmental manifestation in a 9-year-old girl. Since birth, the child had presented asymptomatic angiomatous macules arranged in a segmental pattern on the neck and trunk. During a follow-up period of 9 years, disseminated smaller papulonodular lesions developed on both arms and the left leg with a segmental distribution. Histopathology of congenital and acquired lesions confirmed the diagnosis of glomangiomas. The family history was negative for glomus tumors. This type of presentation supports the recently described type 2 segmental manifestation of multiple glomus tumors, with a segmental involvement of congenital early developing lesions.

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.…”

Congenital glomangioma of the breast: type 2 segmental manifestation

“…In all of these cases, a unilateral band‐like arrangement of pronounced glomus tumors was associated with disseminated milder lesions that appeared later in life 26 . We found in the literature a total of eight cases of congenital glomangiomas with type 2 segmental involvement, including the case by Landthaler 22,23,27–30 . In all of these cases, the patients presented with plaque‐like or patchy lesions in a unilateral distribution that later disseminated, as in our case.…”

“…It was thus referred to as a congenital plaque‐like glomangioma . This type was found to enlarge with body growth 23 and is not as symptomatic as the solitary tumor. Rarely there may be a cluster of nodules 14 as noted in our patient.…”

‘Atypical’ Cases of Hailey-Hailey Disease May Represent Typical Examples of a Type 2 Segmental Manifestation

“…In this way, cases of type 2 segmental manifestation will certainly be recognized more often, and this concept offers an explanation why such cases may turn out to be extremely diffi cult to treat [7] . The same argument applies to Darier disease, epidermolytic hyperkeratosis of Brocq, glomangiomatosis [10] , cutaneous leiomyomatosis and many other autosomal dominant skin disorders in which the new concept of type 2 segmental manifestation has been proposed but still waits to be proven at the molecular level. …”