Anti-melanoma differentiation-associated gene 5 and anti-Ro52 antibody-dual positive dermatomyositis accompanied by rapidly lung disease: Three case reports.

BACKGROUND: Clinically amyopathic deramatomyositis was manifested as the various cutaneous dermatomyositis (DM) manifestations without muscle weakness. Anti-melanoma differentiation-associated gene 5 (anti-MDA5) and anti-Ro52 antibody-dual positive clinically amyopathic DM patients are at a high risk of developing rapidly progressive interstitial lung disease, and they exhibit an immensely high half-year mortality. CASE SUMMARY: We presented three patients with anti-MDA5 and anti-Ro52 antibody-dual positive DM patients and we reviewed the previous studies on the link between anti-MDA5 and anti-Ro52 antibody-dual positive DM. Although we aggressively treated these patients similarly, but they all exhibited different prognoses. We reviewed the importance of clinical cutaneous rashes as well as the pathogenesis and treatment in the dual positive anti-MDA5 and anti-Ro52 associated DM. CONCLUSION: Patients with anti-MDA5 anti-Ro52 antibody-dual positive DM should be accurately diagnosed at an early stage and should be treated aggressively, thus, the patient's prognosis can be significantly modified.

Treatment of paradoxical eczematous eruption in psoriasis treated with secukinumab: A case report.

RATIONALE: Eczematous eruption is an increasingly recognized form of drug-related eruption, typically reported in association with interleukin 17 (IL-17)A inhibitors. However, severe paradoxical eczematous eruption due to IL-17A inhibitors has been rarely reported. Herein, we reported a case of a man with severe psoriasis with erythematous scaly plaques on the scalp, trunk, and arms and legs after the administration of secukinumab was initiated. PATIENT CONCERNS: We reported a case of a 20-year-old man with severe psoriasis with erythematous scaly plaques on the scalp, trunk, and arms and legs after the administration of secukinumab was initiated. A skin biopsy was performed. It revealed spongiotic dermatitis consistent with eczematous reaction. Direct and indirect immunofluorescence assays were negative. DIAGNOSES: He was diagnosed with eczematous eruption. INTERVENTIONS: Discontinuation of secukinumab and administration of cyclosporine and prednisone were considered. OUTCOMES: Significant improvement was observed, with no adverse events. CONCLUSION: Our case shows that eczematous eruption can paradoxically occur in patients on IL-17A inhibitors and this report is expected to increase awareness of the rising number of cutaneous eruptions related to biological agents.

An unusual case report of porokeratosis ptychotropica on the buttocks.

RATIONALE: Porokeratosis ptychotropica represents an unusual form of porokeratosis characterized by symmetrical dyskeratotic skin lesions on the gluteal clefts. Herein, we report a case of porokeratosis ptychotropica. PATIENT CONCERNS: A 33-year-old man, who complained of itching papules and plaques in the gluteal cleft and the buttocks for the last 7 years. Clinical examination showed a large well-defined reddish brown verrucous plaque located on both buttocks along with satellite papules on the inner thigh. Dermoscopy and histopathological findings were consistent with porokeratosis. DIAGNOSIS: He was diagnosed with porokeratosis ptychotropica. OUTCOMES: No significant improvement was observed following treatment with oral acitretin and a topical retinoid. LESSONS: The case report highlights the need for awareness amongst dermatologists for porokeratosis ptychotropica as a differential diagnosis for pruritic papules in the gluteal fold.

Germline Mutation of PLCD1 Contributes to Human Multiple Pilomatricomas through Protein Kinase D/Extracellular Signal-Regulated Kinase1/2 Cascade and TRPV6.

Pilomatricoma, a benign skin appendage tumor, also known as calcifying epithelioma, consists of islands of epithelial cells histologically that contain anucleated cells in the center surrounded by basophilic cells and partial calcification. Sporadic pilomatricomas commonly have somatic mutations in the gene CTNNB1, but causative genes from germline and the underlying pathophysiology are unclear. In this study, we identified a germline missense variant of PLCD1 encoding PLCδ1, c.1186G>A (p.Glu396Lys), in a large Chinese family with autosomal dominant multiple pilomatricomas. Phospholipase C, a key enzyme playing critical roles in intracellular signal transduction, is essential for epidermal barrier integrity. The p.Glu396Lys variant increased the enzymatic activity of PLCδ1, leading to protein kinase C/protein kinase D/extracellular signal-regulated kinase1/2 pathway activation and TPRV6 channel closure, which not only resulted in excessive proliferation of keratinocytes in vitro and in vivo but also induced local accumulation of calcium in the pilomatricoma-like tumor that developed spontaneously in the skin of Plcd1E396K/E396K mice. Our results implicate this p.Glu396Lys variant of PLCD1 from germline leading to gain-of-function of PLCδ1 as a causative genetic defect in familial multiple pilomatricomas.