Clinical and Experimental Dermatology

doi: 10.1111/ced.13710pmid: N/A

Dinani, N.; George, S.

doi: 10.1111/ced.13929pmid: 30793352

SummaryNail cosmetics are used by millions worldwide and the variety of products available is expanding. They are relatively safe, but complications can occur, and patients experiencing complications may present to dermatologists. The physical processes can cause nail thinning and onycholysis, poor technique can promote infection, and consumers may develop allergic contact dermatitis. Ultraviolet nail lamps are widely used for curing gel nails, but their use is unregulated and they are readily accessible in salons or for home use. There is concern about potential carcinogenesis; however, the risk is negligible and can be further reduced with the use of sunscreen. Despite the potential complications, nail cosmetics may be a useful adjunct in treating nail disorders. Familiarity with the procedures will enable the dermatologist to recognize problems and advise on safe use.

Tatian, A.; Slape, D.; Lawless, R.; Frew, J. W.

doi: 10.1111/ced.13980pmid: 31074523

SummaryPachyonychia congenita (PC) describes a group of genodermatoses manifesting as thickened nails, palmoplantar keratoderma (PPK) and increased risk of cutaneous infections. PC tarda (PCT) describes late‐onset PC, and associated genetic polymorphisms have been identified. There has been discussion that PCT may not be a distinct entity but rather misdiagnosed ectodermal dysplasia (ED) or PPK. Clarification of this is important for appropriate diagnosis, management and patient and genetic counselling. We aimed to conduct a systematic review of all reported cases of PCT in the published literature and collate evidence of genetic polymorphisms and clinical features to compare with known features of PC, ED and PPK. PubMed (1946 to 1 July 2018), Scopus (1955 to 1 July 2018) and Web of Science (1990 to 1 July 2018) databases were searched for case reports of PCT with no search restrictions on date or language. The search strategy included the terms pachyonychia congenita tarda OR pachyonychia congenita AND (late onset OR delayed OR PCT). In total, 13 reports describing 19 individual cases of PCT were identified. Of the three identified genetic polymorphisms, the earliest identified has been shown to be highly probably pathogenic, with the second likely to result in a benign amino acid change, while the third has since been shown to be nonpathogenic,. No epigenetic studies have been performed on any reported cases. Previous authors have suggested that a number of cases of PCT may be misdiagnosed ED or PPK. The findings of our review cannot refute this suggestion, and highlight the need for thorough clinical documentation of suspected cases of PCT and thorough genetic screening of kindred to identify causative genetic polymorphisms. Further high‐quality datasets and reporting are needed to give further insight into the nature of PCT as a unique entity.

Li, Z. Z.; Zhong, W. L.; Hu, H.; Chen, X. F.; Zhang, W.; Huang, H. Y.; Yu, B.; Dou, X.

doi: 10.1111/ced.13841pmid: 30499126

SummaryBackgroundEpidermal barrier dysfunction is the initial event in the development of atopic dermatitis (AD). Recent studies have identified a crucial role for the aryl hydrocarbon receptor (AHR) in controlling the gene expression of filaggrin and other skin barrier proteins, suggesting an underlying association between AHR and AD pathogenesis.AimTo investigate the role of AHR gene polymorphisms in the susceptibility to AD and in AD‐associated phenotypes.MethodsWe enrolled 487 patients with AD, 210 patients with psoriasis and 226 healthy controls (HCs) from the Han Chinese population, and genotyped two AHR single‐nucleotide polymorphisms (rs10249788 and rs2066853) by PCR and subsequent DNA sequencing.ResultsThe AHR rs10249788 and rs2066853 polymorphisms were found in both sets of patients (AD and psoriasis) and in HCs, but no significant differences were detected in genotype or allele frequencies between the three groups. However, patients with AD with the rs10249788 (CT/TT) or rs2066853 (AG + AA) genotype were more likely to have severe dry skin scores. In the stratification analysis, the AHR rs2066853 (AG + AA) and rs10249788 (CT + TT) genotypes could predict a higher risk of severe dry skin phenotypes in the male, early‐onset and allergic rhinitis subgroups. Furthermore, the combined rs10249788 (CT + TT) and rs2066853 (AG + AA) genotypes led to a higher risk for severe dry skin in patients with AD.ConclusionAHR polymorphisms are not associated with the risk of AD; however, they may predict a dry skin phenotype in patients with AD.

Yin, G. W.; Xia, X. X.; Song, F. J.; Huang, Y. H.

doi: 10.1111/ced.13862pmid: 30793382

SummaryBackgroundDespite its high contagiousness, high recurrence rate and potential for malignant transformation, effective treatments for condyloma acuminatum (CA) have not yet been developed. Accordingly, it is necessary to clarify the mechanisms underlying CA development.AimTo investigate the expression and significance of the proteins Wnt‐1 and TSLC1 in patients with CA and in normal foreskin controls.MethodsWnt‐1 and TSLC1 were assessed by immunohistochemistry in 45 patients with CA.ResultsPositive expression rates of Wnt‐1 and TSLC1 were 82.22% (37/45) and 37.78% (17/45), respectively, in CA tissues, and 29.17% (7/24) and 91.67% (22/24), respectively, in normal foreskin controls. Wnt‐1 expression intensity in CA was markedly higher (positive to strongly positive) than that in normal controls (negative to weakly positive), whereas TSLC1 expression intensity ranged from weakly positive to positive in CA, and nearly strongly positive in the normal control group. The differences in the positive expression rate and expression intensity of Wnt‐1 and TSLC1 between the two groups were statistically significant (P < 0.05). In addition, Wnt‐1 and TSLC1 were negatively correlated. (r = −0.336, P < 0.05).ConclusionsOverexpression of Wnt‐1 and low expression of TSLC1 may be associated with the growth of CA. These findings may provide a basis for the development of therapies to prevent recurrence or malignant transformation of CA.

Alani, A.; Blasdale, C.; Oliphant, T.; Hackett, C.; Langtry, J. A. A.

doi: 10.1111/ced.13897pmid: 30706554

SummaryBackgroundAdvanced stage primary cutaneous malignant melanoma (PCMM) has a high mortality. PCMM may affect any area of the skin, including the nail apparatus (malignant melanoma or subungual melanoma). Although nail apparatus malignant melanoma (NAMM) is rare, delayed diagnosis carries a poor prognosis.AimThe primary aim was to study the range of nail presentations and identify key patterns to aid in differential diagnosis. A secondary aim was to quantify the number of patients requiring surgery, indications for biopsy, and the incidence and characteristics of NAMM.MethodsThis was a prospective study of all referrals with nail apparatus pigmentation to a weekly dedicated melanoma screening clinic over a 6‐month period.ResultsIn total, 2246 patients were included. Of the 38 patients referred with nail pigmentation, 1 (2.6%) was diagnosed with NAMM and involved a fungating amelanotic lesion of the right hallux. The remaining patients were diagnosed with subungual haematoma (20/38; 52.6%), viral wart (2/38; 5.4%), acral fibrokeratoma (1/38; 2.6%), myxoid cyst (3/38; 7.9%), fungal nail infection (4/38; 10.5%), Pseudomonas nail infection (1/38; 2.6%), benign linear pigmentation (2/38, 5.3%), Bowen disease (1/38, 2.6%), psoriatic nail changes (2/38; 5.3%) and matrix malalignment (1/38; 2.6%). Of the eight patients (21.1%) who required surgery, five had a biopsy taken and three underwent surgery. Only 14 cases were followed up by Dermatology. NAMM accounted for 0.7% of all melanomas diagnosed.ConclusionWe illustrate the wide range of diagnoses for pigmented nail presentations and highlight the late presentation of advanced disease in a patient presenting with NAMM.

Papanikolaou, M.; Lawrence, C. M.

doi: 10.1111/ced.13896pmid: 30663131

SummaryBackgroundLentigo maligna (LM) may be disfiguring and can progress to LM melanoma. Surgical excision remains the mainstay of treatment, but may result in disfigurement when used for large facial lesions. Topical imiquimod is a nonsurgical alternative although data on its long‐term efficacy remain limited.AimTo assess long‐term outcomes of LM treated with imiquimod cream.MethodsWe collected data retrospectively for 33 patients treated with imiquimod cream for biopsy‐proven LM from 2001 to 2016. Patients initially applied imiquimod once daily, 5 days/week for 6 weeks, aiming to produce a brisk local inflammatory response. If there was no response, the dose was increased to twice daily 7 days/week for 6 weeks and if again there was no response, to twice daily for 10 weeks.ResultsAn inflammatory response developed in 29 (88%) of the 33 patients, and of these, 4 patients stopped treatment earlier than planned because they could not tolerate the inflammatory reaction, while 3 patients reported systemic side effects. There was lesion clearance in 21 (72%) of the 29 patients, and they remained clear after a mean follow‐up of 4.1 years. Eight failed to clear; in five the lesion was excised, while the remaining three were managed expectantly.ConclusionsOur results support the use of imiquimod as an alternative to surgery for the treatment of LM in selected cases. With adequate patient preparation, imiquimod is generally tolerated and can achieve excellent cosmetic results. A clinical response is more likely if there is a brisk inflammatory response, and LM will not resolve if there is no inflammatory response.

Ragab, M.; Hassan, E. M.; Elneily, D.; Fathallah, N.

doi: 10.1111/ced.13864pmid: 30652337

SummaryBackgroundAcne vulgaris (AV) is an inflammatory disorder with a possible genetic background. Different cytokines and mediators are involved in its pathogenesis.AimOur aim was to investigate the interleukin (IL)‐6 572 polymorphism in patients with AV and its relation to patient sex and acne severity.MethodsIn total, 30 patients with acne and 20 healthy controls (HCs) were enrolled. The Global Acne Grading System was used to assess acne severity. The IL‐6 572 gene promoter polymorphism was assessed using the PCR–restriction fragment length polymorphism method.ResultsThere was a significantly higher association of IL‐6 572 variants genotypes in patients with acne (93%) compared with the HC group (45%) (P < 0.001), with a higher incidence of the IL‐6 572 CC polymorphism in patients with acne. A significant difference (P < 0.001) between C and G alleles in patients vs. HCs was detected. There were no significant associations between the IL‐6 572 variant genotypes and either patient sex or AV severity.ConclusionIL‐6 gene promoter polymorphism might have a role in AV susceptibility but it is not related to AV severity.

Liu, R. C.; Consuegra, G.; Chou, S.; Fernandez Peñas, P.

doi: 10.1111/ced.13867pmid: 30618056

SummaryVitiligo‐like depigmentation (VLD) is a characteristic cutaneous event described in patients with metastatic malignant melanoma receiving treatment with immune checkpoint inhibitors. We report the onset of VLD in three patients with other cancer types (cholangiocarcinoma, renal cell carcinoma and squamous cell carcinoma) following treatment with immunotherapy (combination pembrolizumab and nivolumab for the first, and pembrolizumab for the other two cancer types). Cases of VLD have not been reported previously in patients treated for any of these cancers, to our knowledge. Pembrolizumab and nivolumab are monoclonal antibodies targeting programmed cell death (PD)‐1 receptors, while ipilimumab targets cytotoxic T‐lymphocyte antigen‐4. Our clinical finding challenges the current understanding of VLD as a malignant melanoma‐specific immunotherapy‐related adverse event.

Wu, X.; Huang, J.; Jiang, L.; Wu, H.; Cheng, Y.; Chen, C.; Xue, H.

doi: 10.1111/ced.13880pmid: 30609054

SummaryCongenital self‐healing reticulohistiocytosis (CSHR) is a rare disorder characterized by benign skin lesions with a tendency to self‐heal. Multiple skin lesions are usually present in CSHR. It is very difficult to distinguish between CSHR and an invasive Langerhans cell histiocytosis. We present a case of a 5‐month‐old infant girl who had hypopigmented skin lesions distributed over her neck, thorax and torso. The skin lesions regressed spontaneously 2 months after the diagnosis of CSHR and the child has remained in complete remission without any sign of recurrence over a 2‐year follow‐up. BRAF V600E mutation was detected in lesional cells along with a low Ki‐67 proliferative activity of about 6%. BRAF oncogene‐induced senescence might contribute to a mechanism of self‐regression in CSHR; however, the exact role of the somatic BRAF V600E mutation in CSHR remains to be determined.