Pediatric Dermatology最新文献

This report describes an unusual case of a young anemic female who experienced acute hepatic insufficiency and angioedema after ferrous sulfate consumption. Her primary diagnosis of congenital erythropoietic porphyria (CEP) was revealed after a detailed dermatologic examination and laboratory data. The patient was treated with IV methylprednisolone along with red blood cell transfusion, vitamin supplementation, and wound care. Our case report emphasizes the importance of physician awareness of CEP since it is a rare disease that tends to mimic other chronic porphyrias, various drug reactions, and collagenopathies.

An 11-year-old female with neurofibromatosis type 1 (NF-1) and history of optic glioma presented with a progressive cutaneous plexiform neurofibroma of the breast. The lesion was treated with topical application of a mitogen-activated protein kinase inhibitor, trametinib, resulting in stable, non-progression cutaneous plexiform neurofibroma for greater than 2 years. This case demonstrates the potential application of topical trametinib for NF1-associated superficial cutaneous plexiform neurofibroma without the toxicities associated with systemic treatment.

Introduction: Newborn filiform periungual hyperkeratosis (NFPH) incidence and prevalence during the neonatal period remain unknown and have not been described in current literature. Timely diagnosis and treatment are essential to avoid complications during the neonatal period, such as acute paronychia.

Objective: The aim of our prospective observational study was to describe the characteristics of NFPH in neonates born in a referral hospital in Buenos Aires.

Results: One hundred patients were included. Most of them were male (60%). NFPH consists of hard, filiform elements, mostly present bilaterally in lateral nail folds. It was found in 46% of included patients. Prevalence was higher in the right hand. Due to a trend towards easy detachment and fracture, erosions were seen in several cases. Two cases of acute paronychia secondary to NFPH were diagnosed, with favorable outcomes after topical antibiotic treatment.

Conclusion: The importance of clinical examination for screening of this local predisposing factor for infection in neonatal patients is highlighted.

Composite hemangioendothelioma (CHE) is a rare locally aggressive vascular neoplasm of intermediate malignancy. We describe a 2-year-old patient diagnosed with this tumor. Careful documentation of patients with CHE is crucial to better define the prognosis and treatment of this entity.

The criteria for clinical diagnosis of neurofibromatosis type 1 (NF1) are not sensitive in young children. Recognition is easier when one of their parents has been diagnosed with this condition, and the causal mutation is known. We present a case of a girl with isolated café-au-lait spots, whose father was diagnosed with NF1. However, both were found to carry different de novo mutations in the NF1 gene. This possibility has significant implications for the diagnostic process and genetic counseling.

Background/aims: Congenital melanocytic nevi (CMN) are often unexpected discoveries at time of childbirth or adoption. Understanding how parents/guardians cope with these visible birthmarks can help clinicians better care for children and their families. Using qualitative methods, we sought to categorize early family responses to CMN and identify approaches to better engage with parents early in their child's life.

Methods: Semi-structured interviews were conducted within a broader study on shared decision making for families with children with CMN. Discussions included information on birth and early life experiences. Data was dual-coded, inductively and deductively, and analyzed with the Parker and Endler framework exploring emotion-, task-, and avoidance-oriented coping.

Results: Fifteen parents of 13 children were interviewed. Parents described all three categories of coping. Emotions ranged from guilt, to neutrality, to positive responses seeing their child's CMN. Stress was lower in families with prior knowledge of CMN. Dermatology referral provided an opportunity for learning, but also triggered worry for some families.

Conclusions: Parents process and react to the diagnosis of CMN with a range of emotions and coping styles. Dermatologists can utilize open-ended questions to understand family emotions and provide families with tailored knowledge and resources. Early discussion of the diagnosis and family education are important support tools.

Conradi-Hünermann-Happle syndrome is a rare genodermatosis affecting cholesterol metabolism caused by pathogenic variants in the emopamil binding protein (EBP) gene. It presents with skin, skeletal, and ophthalmological alterations. Cutaneous findings include hyperkeratotic lesions following Blaschko lines that subsequently improve leaving scarring alopecia and patches of atrophy. The purpose of this case report is to present a case of a patient treated with simvastatin-cholesterol ointment.

Bullous pemphigoid (BP) is an autoimmune blistering disease primarily affecting the elderly, whereas cases of juvenile BP are rare. Both types of BP are typically mediated by autoantibodies targeting the NC16A region of BP180; however, a small subset of adult patient sera react to other regions of the protein. The incidence of a similar occurrence in juvenile BP is unknown. This case of juvenile BP with a negative BP180 ELISA highlights diagnostic pitfalls that can lead to a delay in the correct diagnosis in the pediatric population.

Pili multigemini is an uncommon hair follicle disorder, where multiple hair shafts emerge from the same follicular opening. While it is commonly observed in men's facial hair, it has also been reported, albeit infrequently, in other areas of the body. Here we describe an unusual case of congenital pili multigemini presenting on the eyebrow of a female infant.