BackgroundCutaneous lichen amyloidosis (CLA) has been reported in some multiple endocrine neoplasia type 2A (MEN 2A) families affected by specific germline RET mutations C634F/G/R/W/Y or V804M, as a characteristic of the clinical manifestation in ‘MEN 2A with CLA’, one of four variants of MEN 2A, which was strictly located in the scapular region of the upper back.Patient FindingsThis study reports a large south-eastern Chinese pedigree with 17 individuals carrying the MEN 2A-harboring germline C611Y (c.1832G>A) RET mutation by Sanger sequencing. One individual presented MEN 2A-related clinical features, including typical CLA in the interscapular region; another individual exhibited neurological pruritus and scratching in the upper back but lacked CLA skin lesions. Both subjects presented with CLA or pruritic symptoms several years before the onset of medullary thyroid carcinoma (MTC) and/or pheochromocytoma. The remaining 15 RET mutation carriers did not exhibit CLA; of these, one presented with MTC and pheochromocytoma, nine with MTC only, two with elevated serum calcitonin and three younger subjects with normal serum calcitonin levels. This family’s clinical data revealed a later diagnosis of MTC (mean age, 45.9 (range: 23–73) years), a lower penetrance of pheochromocytoma (2/17, 11.8%) and CLA (1/17, 5.9%). However, no hyperparathyroidism and Hirschsprung disease were reported in this family.Summary and ConclusionsThis is the first description of a family with MEN 2A-related CLA due to a germline RET C611Y mutation, which might exhibit a novel and diversified genotype–phenotype spectrum in MEN 2A.

By understanding the CLSM features of honeycomb pattern, cobblestone pattern, ringed pattern and dermal papillae individually or in combination, the findings support the roles of these characteristic architectures in diagnosis and differential diagnosis of skin diseases.

Vitiligo is a commom disease of skin. Its pathogenesis is complex, resulting in the incapacity to find a targeted cure. Baicalin, which is isolated from Scutellariae radix, has been known to exhibit a number of pharmacological effects on autoimmune diseases. In this study, we explored the effects of Baicalin on the recovery of vitiligo stimulated by monophenylketone in mice. We observed that Baicalin slowed down the progression of depigmentation, decreased the incidence of depigmentation, and reduced the area of depigmentation. Moreover, reflectance confocal microscopy (RCM) shown that Baicalin increased the epidermal melanocytes in depigmented skin. Baicalin decreased CD8 T cell infiltration in mice skin, and decreased the expression of CXCL10 and CXCR3. Baicalin significantly decreased the levels of serum cytokine (interleukin [IL]-6, tumor necrosis factor [TNF]-α, interferon-γ [IFN-γ], and IL-13). Collectively, these data suggest that Baicalin play an important role in the occurrence and development of vitiligo.

Hyperkeratosis hinders the application of reflectance confocal microscopy (RCM) to image squamous cell carcinoma (SCC). Not all lesions with SCC show hyperkeratosis, and these lesions can be directly imaged. However, lesions with hyperkeratosis can be treated by debriding the hyperkeratotic surface for further imaging. RCM was used to investigate patients with suspected SCC. Lesions without obvious keratosis underwent direct RCM examinations. Lesions with obvious keratosis were treated by debriding the hyperkeratotic surface. The following main RCM criteria were used to diagnose invasive SCC: atypical keratinocytes arranged in nests, islands, and disarrangement patterns; an atypical honeycomb pattern; the absence of a cobblestone pattern; and non-edged dermal papillae. Other characteristics of invasive SCC observed by confocal microscopy included keratin pearl structures, hyperkeratosis, and inflammatory cell infiltration. During the follow-up period after treatment, both the cobblestone pattern and edged dermal papillae were as important as the typical honeycomb pattern in suggesting a normal skin structure. Our findings indicate RCM is a valuable tool to noninvasively examine the histology of invasive SCC before and after therapy.