The Australasian journal of dermatology
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Australas. J. Dermatol. · Aug 2019
Study of Human Leukocyte Antigen (HLA) in 13 cases of familial frontal fibrosing alopecia: CYP21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA-A*33:01; B*14:02; C*08:02 as a genetic marker.
The aetiology of frontal fibrosing alopecia is unknown, and its genetic aspect remains uncharacterised. The aim of this report is to elucidate if major histocompatibility complex is associated with familial frontal fibrosing alopecia. ⋯ CYP21A2 gene p.V281L mutation can be used as a genetic marker for susceptibility to familial frontal fibrosing alopecia. Both the linkage of the mutation to F16A and the fact that F16A-negative patients share other human leukocyte antigen class I haplotype, point to an antigen-driven mechanism in susceptible patients with these haplotypes.
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Australas. J. Dermatol. · Aug 2019
Accuracy of partial biopsies in the management of cutaneous melanoma.
The recommended method for histopathological diagnosis of cutaneous melanoma is excisional biopsy, although partial biopsies (shave and punch) are often used. Following a partial biopsy, treatment guidelines recommend a narrow excisional biopsy to plan definitive management. There is limited evidence on the benefits of direct wide local excision (WLE) following diagnostic partial biopsies. ⋯ In most cases, partial biopsy (particularly shave biopsy) can provide sufficient information to plan for definitive surgical melanoma management. Punch and incisional biopsies have elevated upstaging rates, a consideration in planning therapy. Partial biopsies of desmoplastic or acral lentiginous melanomas have high rates of upstaging and should have a complete excision prior to definitive treatment.
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Solar urticaria (SU) is a rare form of urticaria with a pathogenesis that is poorly understood. It affects all skin types, can be difficult to diagnose, and is challenging to manage effectively. We conducted a retrospective review of patients with SU in our institution. ⋯ Of the 60 patients who underwent monochromator testing at least once, 35 had SU confirmed with most reacting to visible light and UVA, or to UVA alone. Antihistamines and sun avoidance remain the mainstay treatment for SU but other treatments, including omalizumab, are of potential interest in treating patients with recalcitrant SU. The characterisation of this large case series of patients may help dermatologists recognise and manage this rare disorder appropriately.
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Australas. J. Dermatol. · Feb 2019
Dermoscopy improves diagnostic accuracy for clinically amelanotic nodules.
Amelanotic nodular melanomas are notoriously difficult to diagnose and are responsible for a disproportionate burden of melanoma mortality. It is important to distinguish them from other amelanotic nodules. This study aimed to describe the dermoscopic features of a series of nodular melanomas and other amelanotic nodules and to determine whether dermoscopy improves diagnostic accuracy. ⋯ Dermoscopy improves diagnostic accuracy for amelanotic melanomas and other amelanotic nodules. Although dermoscopy improves diagnostic accuracy for amelanotic melanomas, these aggressive melanomas remain diagnostically difficult.