The molluscum pendulum necklace sign in tuberous sclerosis complex: a case series A pathognomonic finding?

Histological Patterns of Skin Lesions in Tuberous Sclerosis Complex: A Panorama

“…However, these common lesions are also seen in the general population and have a non-specific histology (lesion with pedicle and fibrous axis without adnexa). Their necklace arrangement on the posterior neck could be a TSC sign [ 26 ].…”

“Molluscum” Conditions in Dermatology

“…[ 18 ] It presents as soft pedunculated growths around the neck [ Figure 3 ], axilla and groin in patients with TSC. [ 19 ] They resemble skin tags found in obese and elderly, but in TSC it presents at a much younger age. [ 20 ]…”

Acrochordons on the neck; a remarkable clinical feature of tuberous sclerosis showing different patterns

“…Whether that sign might be a new pathognomonic sign of this genodermatosis was also discussed by the authors. 1 Acrochordon is one of the most common fibrohistiocytic benign tumours of the skin located preferably on the flexural areas causing soft and pedunculated protrusions. It is of idiopathic origin, with especially multiple lesions constituting a marker for insulin resistance and being associated with acanthosis nigricans, Birt-Hogg-Dube syndrome and TS.…”

“…First-genetic analysis of atypical phenotype of pseudoxanthoma elasticum with ocular manifestations in the absence of characteristic skin lesions Dear Editor, Pseudoxanthoma elasticum (PXE) is an autosomal recessive disease, characterized by mineralization and degeneration of the elastic fibres in the skin, retina and cardiovascular system. [1][2][3][4] PXE is caused by mutations in the ATP-binding cassette subfamily C member 6 (ABCC6) gene, but it remains unknown how these mutations lead to the clinical phenotype. [2][3][4] Although an association between mutations and phenotypes has been postulated, no definite correlation has been established.…”

“…5 Patients with PXE usually exhibit typical skin lesions that are frequently the first-diagnostic signs. 1,6,7 The atypical phenotype of PXE with ocular manifestations in the absence of characteristic skin lesions is uncommon. To our knowledge, the genotype resulting in PXE with this atypical phenotype has not been examined.…”