Whole-transcriptome sequencing identifies postzygotic ATP2A2 mutations in a patient misdiagnosed with herpes zoster, confirming the diagnosis of very late-onset segmental Darier disease.

An 82-year-old female patient presented with a recent onset of painful skin lesions in unilateral distribution on the abdominal area following the lines of Blaschko; the initial diagnosis of Varicella-Zoster infection was made. However, because the individual lesions appeared as hyperkeratotic papules and were unresponsive to antiviral therapy, a skin biopsy was performed, which revealed hyperkeratosis, suprabasal acantholysis and dyskeratosis with corps ronds and grains, consistent with acantholytic dyskeratotic acanthoma. Since this entity has been associated with Darier disease, whole-transcriptome sequencing by RNA-Seq was performed on RNA isolated from a lesion and from adjacent normal appearing skin, and a recently developed bioinformatics pipeline that can identify both genomic sequence variants and the presence of any of 926 viruses was applied. Two pathogenic missense mutations in the ATP2A2 gene were identified in the lesional but not in normal appearing skin, and no evidence of Varicella-Zoster infection was obtained. These findings confirm the diagnosis of segmental Darier disease due to postzygotic mutations in the ATP2A2 gene, and attest to the power of a novel single-step application of RNA-Seq in providing correct diagnosis in this rare genodermatosis.

Interferon α-induced lupus-like reaction in a mycosis fungoides patient: A case report.

Mycosis fungoides (MF) is the most common form of cutaneous T-cell lymphomas and interferon α is one of the treatment modalities for MF patients. So far, various side effects have been reported in connection with interferon use, including lupus-like reaction, which is relatively rare and classified as an injection-site reactions (ISR). We report a 38-year-old female with history of MF for 2 years who developed cutaneous lesions at the sites of interferon α-2b injections. There are few reports of lupus-like reaction due to therapy with interferon in malignant melanoma and multiple sclerosis (MS) patients, but there is no report in the literature about this side effect among patients with MF.

Nilotinib-Induced Elephantine Psoriasis In a Patient With Chronic Myeloid Leukemia: A Rare Case Report and Literature Review.

Tyrosine kinase inhibitors are anticancer drugs that disrupt signal transduction pathways in protein kinases by different mechanisms. This group of pharmacologic agents has significantly improved the outcome of patients with chronic myeloid leukemia. However, their effect is not limited to cancer cells, and various complications, particularly cutaneous reactions, have been reported. We report a very rare case of a 35-year-old female with a history of chronic myeloid leukemia who presented with elephantine psoriasis after the treatment with nilotinib. Conclusions: This case highlights a critical side effect of tyrosine kinase inhibitors. Awareness of this subject can be useful for better management of similar patients.

Effectiveness of dermabrasion plus 5-fluorouracil vs suction blister in treating vitiligo: A comparative study.

Vitiligo is a prevalent destructive melanocyte skin disease that negatively affects the patients' life in terms of self-esteem. Suction blister and dermabrasion plus 5-fluorouracil are effective treatments for vitiligo. The present study was conducted to compare the outcomes of these two techniques. The present clinical trial was conducted on 36 patients with persistent refractory vitiligo which defined as the lack of any new or progressed lesion during the previous year as well as no responding to conventional therapies of vitiligo including topical treatments and phototherapy. Individuals with two vitiligo patches, with similar baseline Vitiligo Area Severity Index (VASI) scores were randomly allocated to dermabrasion plus 5-fluorouracil or suction blister treatments. VASI and repigmentation scores were measured and compared at the baseline, four, and 12 weeks after performing the procedures. Both of the approaches accompanied with significant improvement in both entities of VASI and repigmentation scores (P value < .05) at the end of the study, besides the trend of VASI and repigmentation scores between the two groups revealed insignificant difference (P > .05). The short-term follow-up of the patients was the limitation of this study. The present findings suggested that both surgical techniques of dermabrasion plus 5-fluorouracil and suction blister posed acceptable outcomes within 12-week follow-up.

Necrotizing leukocytoclastic small vessel vasculitis associated with letrozole: A case report.

INTRODUCTION: Letrozole is an aromatase inhibitor that used to treat breast cancers. Letrozole-associated skin vasculitis is a rare side effect of this medication, in this study we report a case of necrotizing type of Small vessel cutaneous vasculitis associated with letrozole consumption. CASE PRESENTATION: A 45-year-old woman was referred to the dermatology clinic with painful necrotic annular lesions on the lower limbs. Her past medical history showed evidence of breast cancer and taking letrozole. Five months after the start of letrozole, the patient's signs and symptoms had appeared. Physical examination revealed annular plaques with erythematous margin and multiple necrotic centers that were painful to touch. The histopathology showed extravasated red blood cells and leukocytoclasis as well as neutrophils surrounding and infiltrating the wall of blood vessels in superficial and mid dermis. We discontinued letrozole, then prescribed topical clobetasol, systemic prednisolone, and colchicine; the lesions began to heal after 1 month from the start of treatment, and did not recur after discontinuing the treatment. DISCUSSION: Pathogenesis of vasculitis caused by aromatase inhibitors is not fully elucidated, but estrogen depletion and idiosyncratic drug reaction has been proposed. Cutaneous leukocytoclastic small vessel vasculitis (CLSVV) resulting from aromatase inhibitors is relatively rare so it is recommended to consider drug-induced CLSVV in other patients treated with aromatase inhibitors.

The heel amelanotic melanoma, a rare subtype of skin cancer misdiagnosed as foot ulcer: A case report.

Amelanotic melanoma (AM) of the heel is a very rare subtype of malignant melanoma in which the tumour cells, unlike other types of melanoma, are characterised by little or no melanin pigmentation. AM resembles many benign dermatological complications that often lead to late diagnosis of lesions, poor prognosis, and occasionally misdiagnosis at an early stage of the disease. We report a case of a 73-year-old man with a heel ulcer who was admitted to Al-Zahra Hospital (Isfahan, Iran). Chronic osteomyelitis was considered the primary diagnosis, and several courses of antibiotics were prescribed for the patient. The ulcer failed to improve after 9 months' of therapy, and because of an increase in the size of the ulcer and the growth of two tumours in the right heel, a biopsy of the lesion was conducted. The pathology report confirmed invasive AM. The present report emphasises the necessity to biopsy all skin lesions, even with low clinical significance, to avoid wrong subsequent treatments, prevent a delay in diagnosis, reduce misdiagnosis, and improve the survival rate of patients.

Multiple dermatofibromas in a patient with Ehlers-Danlos syndrome: a case report.

BACKGROUND: Dermatofibromas, also known as benign fibrous histiocytomas, are among the most common cutaneous soft-tissue lesions. Association of multiple dermatofibromas with some diseases was described and it has not been reported with Ehlers-Danlos syndrome before. We present a case with Ehlers-Danlos syndrome and multiple dermatofibromas. CASE PRESENTATION: An 18-year-old Iranian woman presented with multiple purple nodules ranging from 0.5 to 1.5 cm in diameter, which were mobile and located on the proximal part of the lower limb. The dimple sign of these lesions was positive. During the physical examination, several features suggestive of Ehlers-Danlos syndrome were observed, including hyperextensibility and fragility of the skin, wide atrophic scars on the upper limb, hypermobility of joints and fingers, swan neck deformities of the digits, nodules on the knee, and striae alba on the leg. The patient was previously unaware of having Ehlers-Danlos syndrome. She had a history of asthma and atopic dermatitis. Family history was negative. A biopsy of the nodular lesions was performed, and the findings confirmed the diagnosis of dermatofibromas. CONCLUSION: We describe a patient with Ehlers-Danlos Syndrome who presented with multiple dermatofibromas. To our knowledge, this combination of findings is a previously unreported occurrence.

Clinical effectiveness of finasteride versus hydroxychloroquine in the treatment of frontal fibrosing alopecia: A randomized controlled trial.

BACKGROUND: Frontal fibrosing alopecia (FFA) is a cicatricial alopecia with rapid epidemic growth. However, there is no agreement on the best therapeutic approach. AIMS: To compare the therapeutic effects of finasteride as a first-line systemic treatment of FFA versus hydroxychloroquine as a relatively safe and effective immunosuppressive drug. METHODS: Thirty-four female FFA patients were randomly assigned to receive either 400 mg/day of hydroxychloroquine or 2.5 mg/day of finasteride for 6 months. Topical treatments in both groups include pimecrolimus, mometasone, and minoxidil. Treatment efficacy was evaluated using the Frontal Fibrosing Alopecia Severity Score (FFASS), photography, and trichoscopy after 3 and 6 months. RESULTS: Both the finasteride and hydroxychloroquine groups showed significant improvements in FFASS and trichoscopic scores (p < 0.01). However, there was no significant difference between the two groups during the study. Photographic assessment showed that more than 60% of patients in both groups had improved without statistically significant differences between the two groups. CONCLUSIONS: Both finasteride and hydroxychloroquine are equally effective, safe, and well-tolerable for treating FFA patients.

Case of widespread and atypical cutaneous leishmaniasis in a young woman with breast cancer.

Cutaneous leishmaniasis is caused by protozoan parasites of the genus leishmania. Atypical presentation and widespread progression of the lesions may be seen in an immunocompromised patient. We report a case of atypical and widespread cutaneous leishmaniasis in a young woman with breast cancer.

Multiple, giant lymphangectatic pilomatricomas: A rare clinical entity.

This case highlights the rare and atypical presentation of giant, multiple pilomatricomas (PMs) with a pseudo-bullous appearance and lymphangiomatous pathology. It underscores the importance of considering PM in the differential diagnosis of atypical lesions, especially those mimicking cystic or hemorrhagic malignant conditions, to prevent misdiagnosis and ensure appropriate management.

Acral Solitary Nodule as a First Clinical Manifestation of Chronic Lymphocytic Leukemia.

Leukemia cutis is a rare cutaneous manifestation of chronic lymphocytic leukemia (CLL) which mostly occurs in the late stages of the disease. We reported an unusual case of a patient with leukemia cutis that developed before the diagnosis of CLL and mimicked cutaneous leishmaniasis (CL). A 52-year-old female presented with an ulcerative nodule on the right forearm. The lesion initially was suspected of being cutaneous leishmaniasis; however, the examination of skin lesion biopsy revealed a dense, diffuse, and monomorphous infiltration of lymphocytes in the dermis. Furthermore, immuno-histochemistry analysis of skin lesion biopsy was indicative of small lymphocytic lymphoma (SLL). The result of laboratory tests showed high white blood cell and lymphocyte counts. The results of bone marrow smear, flow cytometric analysis, and computed tomography of the abdomen and pelvis were suggestive of CLL/SLL (stage I). This case has clinical implications for early diagnosis and management of CLL/SLL.

Disseminated perforating necrobiosis lipoidica: A case report and literature review.

Key Clinical Message: Necrobiosis lipoidica is a rare cutaneous granulomatous disease that mainly affects diabetic patients. The perforating type of the disease is an uncommon variant that is resistant to therapy and can be easily identified using dermoscopy. Abstract: Perforating necrobiosis lipoidica (NL) is a rare NL variant that primarily affects patients with diabetes mellitus (DM). Dermoscopy helps to differentiate this type of disease. The disseminated form of perforating NL mainly occurs in the setting of DM. Here we present a case of disseminated perforating NL in a 24-year-old woman with type 1 DM.

Epidermal nevus superimposed by psoriatic plaque in a girl with proteous syndrome.

Proteus syndrome (PS) is a rare syndrome characterized by asymmetric limb overgrowth, vascular malformation, and hamartomas. In this study we report a case of PS in a 13-year-old girl with chief complaint of a new cutaneous lesion that was diagnosed and treated as leishmaniasis.

Coexistence of mucinous nevus and multiple collagenoma with unilateral, dermatomal, and multi segmental distribution.

Connective tissue nevus is a hamartoma composed of excess amounts of one or several components of the dermis, such as collagen, elastin, and proteoglycans. This report introduces a 14-year-old girl with grouped flesh color papules and skin color nodules distributed unilaterally with a dermatomal pattern. These lesions involved more than one segment. Histopathology is the gold standard for diagnosing collagenoma and mucinous nevus. We reported the first case of mucinous nevus with multiple collagenoma that shows the specific clinical features.

Granuloma annulare with alopecia areata in a 6-year-old girl: a case report.

BACKGROUND: Dermatologic signs and symptoms can be the manifestations of a single disease or different diseases, and it is proven that some are associated with one another. These connections are not fully understood, but the answer lies in the pathophysiology of each disease. CASE PRESENTATION: We report the case of a 6-year-old Middle-Eastern girl who presented with two skin lesions on the dorsum of her foot, along with scaling of her soles and palms, face skin discoloration, and areas of patchy alopecia on her scalp. She was diagnosed as a case of acute onset of granuloma annulare with alopecia areata and dermatitis. The treatment regimen for the patient's scalp consisted of topical minoxidil and betamethasone and three sessions with 1-month intervals of triamcinolone acetonide intralesional injections, which demonstrated modest effectiveness in treating alopecia areata. CONCLUSION: Granuloma annulare is a benign inflammatory illness with no known cause that might be difficult to cure. The clinical course and prognosis might vary greatly depending on the disease subtype, and associating symptoms and diseases, such as alopecia areata, should be considered.

Radio-induced simultaneous development of squamous cell carcinoma and undifferentiated pleomorphic sarcoma of scalp.

Radiotherapy was commonly applied to treat benign skin diseases such as tinea capitis. Some patients treated with radiation have developed skin malignancies over the years. This article reported a 72-year-old man presenting with two distinct non-melanoma skin tumors on his scalp, including squamous cell carcinoma and metastatic pleomorphic sarcoma.

Coexistence of cutaneous endometriosis and ovarian endometrioma: a case report.

BACKGROUND: Umbilical endometriosis is a rare entity accounting for 0.5-4% of cases with endometriosis. CASE PRESENTATION: Here we report a rare case of umbilical endometriosis with concurrent ovarian endometriomas in a 37-year old primiparous Iranian woman. CONCLUSION: This interesting coexistence reflects the importance of thorough gynecological assessment in patients with cutaneous endometriosis to enable appropriate management.

Pregnancy-triggered pemphigus vulgaris with favorable fetal outcomes: A case report.

Pemphigus vulgaris is an autoimmune bullous dermatosis which if occurred during pregnancy may result in neonatal complications. In this study we report a 41 years old woman with pemphigus vulgaris that triggered by pregnancy in first trimester of pregnancy followed by the premature birth of a healthy neonate.

A Report of Unusual Case of Acquired Dermal Melanocytosis on the Scalp of a Caucasian Man with a Literature Review.

Dermal melanocytosis includes several benign pigmented lesions which present as blue-gray color which is a result of the color transmission of melanin pigment through the dermis. While some types are present at birth, there is an acquired variant, acquired dermal melanocytosis (ADM), which usually involves faces of middle-aged Asian women. To the best of our knowledge, there are limited reports of extra facial ADM which all are on the trunk and extremities. Herein, we report a unique case of extra facial ADM affecting the scalp of a middle-aged man and provide a review of all extra facial ADM cases that have been reported.