Rare skin

COQ7 pathogenetic variants cause primary CoQ10 deficiency and a clinical phenotype of encephalopathy, peripheral neuropathy, or multisystemic disorder. Early diagnosis is essential for promptly starting CoQ10 supplementation. Here, we report novel compound heterozygous variants in the COQ7 gene responsible for a prenatal onset (20 weeks of gestation) of hypertrophic cardiomyopathy and intestinal dysmotility in a Bangladesh consanguineous family with two affected siblings. The main clinical findings were dysmorphisms, recurrent intestinal occlusions that required ileostomy, left ventricular non-compaction cardiomyopathy, ascending aorta dilation, arterial hypertension, renal dysfunction, diffuse skin desquamation, axial hypotonia, neurodevelopmental delay, and growth retardation...

A heifer and a dairy cow were presented to our practice with cutaneous masses on the left side of their necks. Each mass had a diameter of approximately 20 cm. Both tumors had increased in size in recent weeks and were now prone to injuries from the stable equipment. Both animal owners agreed to surgical removal, which was performed under sedation and local anesthesia on a bovine treatment crush. The subsequent histopathological examinations of the extirpates revealed a melanocytoma in the young heifer and a cutaneous peripheral nerve sheath tumor (PNST) in the dairy cow...

INTRODUCTION: Due to the increasing prevalence of immune-mediated diseases such as psoriasis, lichen planus, rheumatoid arthritis and inflammatory bowel disease, dermatologists have turned to new biologic drugs known as DMARDs (disease-modifying anti-rheumatic drugs) in recent years. AREAS COVERED: In this study, we evaluate the immune-mediated dermatological side effects of DMARDS by reviewing and analyzing previous peer-reviewed research on the effects of TNF-α inhibitors in the treatment of skin diseases, as well as adverse effects of these drugs and some of the main causes of these effects...

Keratoacanthoma (KA) is a papule, plaque, or nodule in an exposed area, with a crater-like horn plug in the center. Multiple KAs are rare disorders, especially when the lesions are agglomerated together. Herein, we report a case of 65-year-old man who presented with four red nodules of different sizes on the right side of the chest. The lesions were clustered, with central keratotic cores, similar in appearance to a four-leaf clover. The nodules were completely removed by excisional surgery and the diagnosis of Agglomerate KAs was made based on clinical and pathological results...

Biostimulators are the latest trends in cosmetic procedures, substances such as PDLLA are used to induce collagen synthesis by a subclinical inflammatory reaction. We are describing a granuloma-like reaction case presentation 4 months after the application of PDLLA and its complete resolution with injections of triamcinolone. A 45-year-old female with any past medical history of allergies or immune diseases was injected with PDLLA on the mandibular border and cheek area to correct skin laxity. Four months after the application, the patient reported facial edema and granuloma-like reactions according to clinical examination on all the application areas...

BACKGROUND: Cryoglobulinemia with pulmonary involvement is rare, and its characteristics, radiological findings, and outcomes are still poorly understood. METHODS: Ten patients with pulmonary involvement of 491 cryoglobulinemia patients at Peking Union Medical College Hospital were enrolled in this retrospective study. We analyzed the characteristics, radiological features and management of pulmonary involvement patients, and compared with those of non-pulmonary involvement with cryoglobulinemia...

Infective dermatitis associated with human T-cell lymphotropic virus type-1 (HTLV-1) (IDH) is a severe form of chronically infected eczema occurring in early childhood, although very rarely cases have been reported in adults. Most of the cases are from Jamaica and Brazil and occur in individuals with low socioeconomic status. IDH is always associated with refractory Staphylococcus aureus or beta-hemolytic Streptococcus infection of the skin and nasal vestibules. Patients with IDH may develop other even more severe HTLV-1-associated diseases, such as HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) of early or late appearance and adult T-cell leukemia/lymphoma...

Cystic fibrosis (CF) is caused by a mutation in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene, and features recurrent sinus and pulmonary infections, steatorrhea, and malnutrition. CF is associated with diverse cutaneous manifestations, including aquagenic wrinkling of the palms, nutrient deficiency dermatoses, and vasculitis. Rarely these are presenting symptoms of CF, prior to pulmonary or gastrointestinal sequelae. Cutaneous drug eruptions are also highly common in patients with CF (PwCF) given frequent antibiotic exposure...

INTRODUCTION: Injuries inflicted by needlefish resemble stab wounds, resulting from the rapid and forceful jumping of needlefish jaws from the water's surface. Needlefish impalement on the neck and face are often fatal compared to body areas or extremities. This case report investigates a rare incident where a 50-year-old male tourist sustained a cervical injury from needlefish impalement during an inter-island cruise. CASE PRESENTATION: A 50-year-old male experienced right neck pain due to accidental impalement by a needlefish...

BACKGROUND: Notalgia paresthetica (NP) is a rare condition characterized by localized pain and pruritus of the upper back, associated with a distinct area of hyperpigmentation. Given the lack of standardized treatment and the uncertain efficacy of available options, applying procedural methods is of growing interest in treating NP. AIMS: We sought to comprehensively evaluate the role of procedural treatments for NP. METHODS: We systematically searched PubMed/Medline, Ovid Embase, and Web of Science until November 14th, 2023...

Secondary prevention with penicillin aims to prevent further episodes of acute rheumatic fever and subsequent development of rheumatic heart disease (RHD). Penicillin allergy, self-reported by 10% of the population, can affect secondary prevention programs. We aimed to assess the role for (i) routine penicillin allergy testing and the (ii) safety of penicillin allergy delabeling approaches in this context. We searched MEDLINE, Embase, CENTRAL, ClinicalTrials.gov, WHO ICTRP, ISRCTN, and CPCI-S to identify the relevant reports...

Secondary malignancies are rare but devastating complications of longstanding burn scars. Squamous cell carcinoma is the most common, followed by basal cell carcinoma and melanomas. There are fewer than 50 total reported cases of malignant melanomas arising in burn scars. We report a case of malignant melanoma arising within a longstanding burn scar confirmed by histology, FISH, and PRAME staining to further characterize melanomas arising in burn scars and to illustrate the diagnostic challenges they present...

Mammary-type tissue in the vulva was first described in 1872 but has been rarely reported in the literature. This tissue was previously considered as ectopic breast tissue that occurs as a result of incomplete regression of the milk line. Similar to native breast tissue, ectopic mammary tissue is hormone-sensitive and can develop benign changes, such as fibroadenoma, as well as malignant changes. A more recent theory suggests that these benign and malignant mammary-type entities arise from mammary-like anogenital glands, which constitute normal vulvar components...

Tuberculosis of the skin is rare and a difficult diagnosis. Moreover, recurrent episodes of mycobacterial infection in the skin with Poncet's disease are rarely reported in females. Herein, the first of its type case of clinical drug-resistant tuberculosis of the skin in an Indian female is presented. She had a history of cutaneous tuberculosis five times in the past. At the sixth time, she came with complaints of an ulcerative lesion over her right forearm and cubital fossa with left knee swelling. The paucibacillary nature of the infection made the diagnosis exceedingly challenging...

Super giant basal cell carcinoma (SGBCC), defined as greater than 20 cm in diameter, is a rare oncological entity, with scarce literature. The authors conducted a review to characterize SGBCC, specifically with regards to age, sex predilection, risk factors, geographical location, body site, metastasis, and treatment. A systematic literature search was conducted from 1972 to 2023. All abstracts, studies, and citations were reviewed. The initial result showed 47 281 articles and were filtered down for human, skin, English language, and SGBCC...

INTRODUCTION: Congenital insensitivity to pain (CIP) is a rare condition where individuals are born with an inability to perceive pain. This can lead to various complications in the skin, skeletal system, and other bodily systems. Chronic osteomyelitis is one of the possible manifestations of CIP, which can be difficult to diagnose and treat due to the lack of pain as a diagnostic criterion. PRESENTATION: A 5-year-old boy with CIP developed chronic osteomyelitis in his right leg, presented with fever, claudication, swelling, and local heat for 2 months...

INTRODUCTION AND IMPORTANCE: Multiple Endocrine Neoplasia Type 2 (MEN2) is a rare autosomal dominant neoplastic syndrome resulting from RET gene mutations, marked by medullary thyroid carcinoma (MTC) and increased risk of other endocrine tumors. MEN2 includes subtypes MEN2A, MEN2B, and familial MTC. Prophylactic thyroidectomy is recommended for MEN2A due to high MTC risk. CASE PRESENTATION: A 38-year-old woman with a family history of thyroid cancer presented with headaches, sweating, and palpable breast mass...

BACKGROUND: The metastasis of primary breast invasive lobular carcinoma to the gastrointestinal tract and skin is a rare phenomenon, with the simultaneous occurrence of both transfers being more uncommon. CASE PRESENTATION: This article reports a case of a patient with hormone receptor-positive, HER2-negative breast invasive lobular carcinoma with gastrointestinal tract and skin metastases. The patient was assessed by a second-look ultrasound and diagnosed by subsequent ultrasound-guided needle biopsy...

Nonclinical safety and pharmacokinetic data for MMAE and 14 vedotin ADCs were evaluated to determine patterns of toxicity, consistency of pharmacokinetic results, and species differences between rats and monkeys. Most nonclinical toxicities were antigen-independent, common across ADCs, and included hematologic, lymphoid, and reproductive toxicity related to MMAE pharmacology. Hematologic toxicity was the dose-limiting or predominant toxicity for the majority of vedotin ADCs in both species. Tissue expression of the targeted antigen of an ADC rarely correlated with dose-limiting toxicity (DLT); only two ADCs had antigen-dependent skin DLTs...

IMPORTANCE: Generalized pustular psoriasis (GPP) lacks internationally accepted definitions and diagnostic criteria, impeding timely diagnosis and treatment and hindering cross-regional clinical and epidemiological study comparisons. OBJECTIVE: To develop an international consensus definition and diagnostic criteria for GPP using the modified Delphi method. EVIDENCE REVIEW: The rarity of GPP presents a challenge in acquiring comprehensive published clinical data necessary for developing standardized definition and criteria...