Case Reports in Dermatology最新文献

Introduction: Raynaud's phenomenon (RP) can be classified as either primary or secondary and is traditionally characterized by triphasic color changes, including white/ischemia (blanching), blue/cyanosis, and red/hyperemia. Secondary RP, resulting from the use of handheld vibrating tools, is also referred to as vibration white finger. Blanching typically occurs in the fingertips; however, there are no documented cases of severe bilateral cyanosis associated with hand-arm vibration syndrome (HAVS).

Case presentation: A 69-year-old male with a 40-year history of using vibrating tools such as chainsaws, picks, and vibrators presented with symptoms of coldness, burning, and numbness. Photographs of the RP were taken during the winter after the patient had been outdoors without adequate warm clothing or gloves. The images depict blanching and cyanosis in all five fingers of both the hands. In this case, nailfold capillaroscopy did not reveal any structural changes such as reduced capillary density, capillary enlargement, or neovascularization but showed minor bleeding. At the 2-year follow-up, finger skin temperature, assessed using cold-water immersion testing, showed no improvement.

Conclusion: This was a rare case of extensive blanching followed by cyanosis. Clinicians should consider a history of vibrating tool use when evaluating patients with blue fingers. This case enhances our understanding of RP and HAVS and offers insights into occupational health practices for individuals using hand-arm vibratory tools.

Introduction: Recent observations have demonstrated that topical steroid withdrawal (TSW) is an induced, but targetable, defect in mitochondrial complex I function that warrants further investigation.

Case presentation: An 8-year-old girl with atopic dermatitis (AD) was treated with topical corticosteroids (TCSs), including high-potency agents. Her initial symptoms were limited to the chest and back. After approximately 3 months of treatment with escalating potency, the perceived lack of TCS efficacy prompted her parents to discontinue TCS while maintaining emollients. Four weeks later, the patient developed new symptoms consistent with TSW involving the face, neck, and legs. The family attempted alternative-medical treatments including turmeric, vitamin D3, and more without clinical response, before observing symptomatic relief with a self-initiated, low dose of methylene blue (MB).

Conclusion: Although the merits of the case are anecdotal, existing literature suggests that TSW is associated with mitochondrial complex I dysfunction, which could explain the observed clinical benefit. Given that both TSW and AD have natural temporal variations, we cannot extrapolate conclusively based on a single report. However, at minimum, providers should be aware of the TSW patient community's consideration of MB as an alternative therapy, especially given the lack of data on long-term safety.

Introduction: Clinically amyopathic dermatomyositis (CADM) is a subtype of dermatomyositis (DM) characterized by cutaneous findings without clinically apparent muscle involvement. While immunosuppressive therapies such as methotrexate, mycophenolate mofetil, and hydroxychloroquine are commonly used, treatment-resistant cases remain a challenge. We present a case of refractory CADM successfully treated with deucravacitinib, a selective TYK2 inhibitor.

Case presentation: A 50-year-old woman with a 3-year history of CADM presented with persistent facial erythema, heliotrope rash, violaceous erythema on sun-exposed areas, and Gottron's sign. Despite multiple systemic treatments, including methotrexate, mycophenolate mofetil, hydroxychloroquine, and topical and oral roflumilast, she continued to experience skin involvement and associated pain. Deucravacitinib 6 mg daily was initiated, leading to near-complete resolution of cutaneous lesions and complete resolution of pain within 10 weeks. At 6 months, her response remained stable, and she continues treatment with ongoing monitoring.

Conclusion: This case highlights deucravacitinib as a potential treatment option for refractory CADM. By selectively inhibiting TYK2, it targets key inflammatory pathways involved in DM pathogenesis while minimizing off-target effects. Further studies are needed to evaluate its long-term safety and efficacy in this patient population.

Introduction: Desmoplakin is constitutive component of desmosome which plays a critical part in keratinocyte adhesion. Skin fragility-woolly hair syndrome (SFWHS) is a very rare autosomal recessive disorder caused by variants in desmoplakin (DSP).

Case presentation: Herein, we described a 2-year-old Chinese boy who presented with palmoplantar keratoderma, short curly hair, and thickening of nails since birth. Histopathological examination showed hyperkeratosis, acanthosis, hypergranulosis, and prominent intercellular fissures. Two heterozygous variants in exon 24 of DSP, c.7642C>T (p.R2548X) and c.6449delC (p.R2151Gfs*3), were identified by whole-exome sequencing and further proven to be a novel compound heterozygous variant by Sanger sequencing. Both variants have not been identified and reported previously.

Conclusion: To the best of our knowledge, this is the second case of SFWHS with compound heterozygous variants in a Chinese population. This case adds new variant spectrum in DSP of SFWHS and highlights the need for genetic testing understanding in patients with characteristic cutaneous findings.

Introduction: Calciphylaxis, also known as calcific uremic arteriolopathy, is a rare, severe disease that causes diffuse skin ischemia and necrotic lesions with a high mortality rate. This disease most commonly affects patients with end-stage renal disease (ESRD). However, there are reported cases of patients developing calciphylaxis without ESRD, known as non-uremic calciphylaxis (NUC). NUC is especially rare, and little is known about its pathophysiology and treatment.

Case presentation: We present the case of a 47-year-old male with multiple comorbidities but no history of ESRD who presented initially with left leg lesions eventually diagnosed as calciphylaxis. Multimodal treatment with extensive rehabilitation and multiple amputations, along with palliative care, was necessary as the patient did not respond to standard treatment of thiosulfate.

Conclusion: NUC is a rare disease, and awareness of its existence is essential for earlier diagnosis and optimal management.

Introduction: Pemphigoid nodularis is identified as a rare clinical variant of bullous pemphigoid (BP), often requiring detailed diagnostic methods due to its atypical presentations, with the concurrent occurrence of psoriasis being rare.

Case presentation: We report the use of tofacitinib in a 66-year-old female with pemphigoid nodularis combined with psoriasis with significant results.

Conclusion: Our research suggests that tofacitinib could effectively treat pemphigoid nodularis in the presence of psoriasis, offering convenient administration and promising efficacy compared to traditional therapies.

Introduction: Porokeratosis ptychotropica (PP) is a rare form of porokeratosis that poses significant diagnostic and therapeutic challenges. Given the rarity of PP, there is a paucity of evidence about effective treatment options. We present the first case of PP being managed with Grenz therapy (a type of superficial, low radiation radiotherapy).

Case presentation: Our patient was a 56-year-old female with PP in the intergluteal cleft and on her right posterior thigh. She was previously unsuccessfully treated with topical, intralesional and oral corticosteroids, topical vitamin D analogues, topical simvastatin-cholesterol cream, topical fluorouracil cream, acitretin, and CO₂ laser assisted photodynamic therapy. She underwent Grenz therapy for 6 sessions, a total dose of 18 Gy to all affected areas, with excellent clinical response. After 2 months of remission, her porokeratosis showed early signs of recurrence.

Conclusion: This is the first reported case of PP being treated with Grenz rays. With no effective treatment, Grenz therapy may present a potential effective treatment for some patients.

Introduction: The treatment of psoriatic disease is frequently complex, and many patients do not respond to the available therapies. While novel therapies like biologics and Janus kinase (JAK) inhibitors have been utilized individually to treat psoriatic disease, limited data are available regarding the effect and potential side effects of combining these agents in treatment.

Case presentations: We present a case series of 6 patients with psoriasis and psoriatic arthritis or inflammatory bowel disease treated with tofacitinib and a biologic (5 treated with IL-23 inhibitors and 1 with an IL-17 inhibitor). All patients had tried multiple treatments prior to initiating combination therapy with tofacitinib and a biologic. Out of the 6 patients, 2 remained on combination therapy, while 4 discontinued either one or both drugs due to lack of response or intolerance. We observed a varying effectiveness of the combination therapy, with an overall positive effect on psoriasis and psoriatic arthritis but no effect on inflammatory bowel disease. No major treatment-emergent adverse events occurred during the combination therapy period.

Conclusion: This case series adds to the sparse data on combining biologics and JAK inhibitors for the treatment of psoriatic disease. Advanced combination therapy with a JAK inhibitor and a targeted biologic agent may represent a relevant treatment option in selected cases of treatment-refractory psoriatic disease. However, larger studies are needed to establish the safety and efficacy of this combination.

Background: Epidermolysis bullosa (EB) with congenital absence of skin (CAS) (Bart syndrome) is a rare condition characterized by the coexistence of any form of EB and congenital localized absence of skin, also known as aplasia cutis congenita (ACC). It represents a subset of ACC with associated epidermal fragility, often leading to blisters, nail dystrophy, and additional congenital anomalies.

Case presentation: We describe a case of a 2-day-old male preterm infant who presented with CAS over the cheeks, lower abdomen, and extremities. Blisters were noted on the left hand fingers, accompanied by nail dystrophy. The clinical presentation was suggestive of a skin fragility disorder. Laboratory investigations and imaging studies revealed multiple associated congenital anomalies. Based on the clinical findings, a diagnosis of Bart syndrome was established.

Conclusion: EB with CAS (Bart syndrome) should be considered in neonates presenting with congenital skin absence and signs of epidermal fragility. Early recognition and multidisciplinary management are crucial for addressing potential complications and improving patient outcomes.

Introduction: Atopic dermatitis (AD) is a chronic skin disease that can affect patients' quality of life through a recurrent inflammatory skin condition, which is often associated with psychiatric effects including depression and anxiety. Treatment with biologics such as dupilumab, an anti-IL-4 receptor alpha antibody, is an effective treatment of AD for both resolving skin conditions and reducing the risk of psychiatric comorbidities. However, the impact of its systemic effects on rare types of patients who are predisposed to psychiatric conditions are not fully understood.

Case presentations: We report 2 cases of AD patients who experienced acute mood episodes during the treatment with dupilumab. While showing remarkable improvement in their skin condition and itch, both patients reported recurrent depressive moods after each injection. The first patient extended the interval of injection from every 2 weeks to every 4 weeks after 24 injections of dupilumab. The second patient switched to another systemic treatment due to severe ocular itch after 7 times of administration of dupilumab. Both patients achieved stable control of the disease after these changes.

Conclusion: These cases highlight dupilumab's efficacy in managing AD but also reveal potential psychological effects. It is advisable for clinicians to exercise caution for emerging or exacerbation of psychiatric conditions during the period from the beginning of dupilumab till the patient achieves stable condition.