Cutaneous manifestations of cystic fibrosis.

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 transient reactive papulotranslucent acrokeratoderma 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. Finally, CFTR modulating therapy, which has revolutionized CF management, is associated with cutaneous side effects ranging from acute urticaria to toxic epidermal necrolysis. Recognition of dermatologic clinical manifestations of CF is important to appropriately care for PwCF. Dermatologists may play a significant role in the diagnosis and management of CF and associated skin complications.

Precalcaneal Congenital Fibrolipomatous Hamartomas.

Precalcaneal congenital fibrolipomatous hamartomas are rare benign lesions that present in infancy. Lesions typically appear as unilateral or bilateral skin-colored asymptomatic subcutaneous nodules on the precalcaneal plantar heel. Diagnosis is clinical, and operative intervention is not indicated unless lesions are symptomatic. We report two cases of subcutaneous plantar nodules diagnosed as precalcaneal congenital fibrolipomatous hamartomas. The aim is to raise awareness of this rare diagnosis and emphasize its benign nature and conservative management.

Fever, Rash, and Cough in a 7-Year-Old Boy.

A 7-year-old boy presented to the emergency department with fever, cough, congestion, abdominal pain, myalgias, and morbilliform rash. Several aspects of the patient's history, including recent travel, living on a farm, exposure to sick contacts, and new medications, resulted in a wide differential diagnosis. Initial laboratory testing revealed leukocytosis with neutrophilia and elevated atypical lymphocytes, but did not reveal any infectious causes of illness. He was discharged from the hospital, but then represented to the emergency department a day later with worsening rash, continued fever, abdominal pain, and poor intake. He was then admitted. A more comprehensive laboratory evaluation was initiated. During this hospital course, the patient's physical examination changed when he developed head and neck edema, and certain laboratory trends became clearer. With the assistance of several specialists, the team was able to reach a more definitive diagnosis and initiate treatment to appropriately manage his condition.

Primary cutaneous mucormycosis in a premature neonate treated conservatively with amphotericin B.

Cutaneous mucormycosis is a rare, often fatal fungal infection that most commonly affects patients with underlying immunosuppression but also can occur in premature neonates. We report the case of an extremely premature boy (<25 weeks) who developed primary cutaneous mucormycosis shortly after birth. Although surgical debridement has been a mainstay of treatment in combination with antifungal therapy, our patient was successfully treated with amphotericin B alone-the management only reported in three other cases to date. We present this case to highlight that prompt initiation of treatment with amphotericin B alone may be an appropriate alternative to surgical intervention, particularly in patients with non-angioinvasive disease who are poor surgical candidates.

Granulomatous Facial Dermatoses.

Noninfectious facial papular granulomas can be the presentation of several conditions, including granulomatous periorificial dermatitis, granulomatous rosacea, lupus miliaris disseminatus faciei, and papular sarcoidosis. Although these entities are treated distinctly from one another, they share several clinical and histological characteristics. We present 2 cases of facial papular granuloma: one patient presented with granulomatous rosacea, and the other had a presentation consistent with sarcoidosis but also demonstrated features of granulomatous periorificial dermatitis and had a protracted course of treatment. Such cases exemplify heterogeneity in the evaluation and management of this cutaneous lesion and highlight the necessity of appreciating its various potential causes.

Pediatric hematidrosis - A case report and review of the literature and pathogenesis.

Hematidrosis is a disorder in which blood-tinged fluid exudes from uninjured skin or mucosa. It is often classified as an eccrine sweat disorder, though the precise mechanism-including involvement of sweat glands-has yet to be proven. In contemporary case reports, hematidrosis appears most frequently in the pediatric population, with 83% of cases in the literature since 2008 occurring in individuals 18 years old or younger. We present here a case of a 10-year-old girl with hematidrosis followed by a review of the literature, with an emphasis on the features of this condition in the pediatric population.

Apple cider vinegar soaks do not alter the skin bacterial microbiome in atopic dermatitis.

INTRODUCTION: Atopic dermatitis is a common skin disease characterized by altered cutaneous immunity in which patients often exhibit lower skin microbiota diversity compared to healthy skin and are prone to colonization by Staphylococcus aureus. Apple cider vinegar has been shown to have antibacterial effects; however, its effects on the skin microbiome have not previously been well-described. OBJECTIVES: We aimed to examine the effects of topical dilute apple cider vinegar soaks on Staphylococcus aureus abundance, skin bacterial microbiome composition, and skin bacterial microbiome diversity in atopic dermatitis participants compared to healthy skin. METHODS: Eleven subjects with atopic dermatitis and 11 healthy controls were enrolled in this randomized, non-blinded, single-institution, split-arm pilot study. Subjects soaked one forearm in dilute apple cider vinegar (0.5% acetic acid) and the other forearm in tap water for 10 minutes daily. Skin bacteria samples were collected from subjects' volar forearms before and after 14 days of treatment. 16S sequencing was used to analyze Staphylococcus aureus abundance and skin bacterial microbiome composition, and alpha diversity of microbiota were determined using Shannon diversity index. RESULTS: There was no difference in skin bacterial microbiome in atopic dermatitis subjects after 2 weeks of daily water or apple cider vinegar treatments (p = 0.056 and p = 0.22, respectively), or in mean abundance of S. aureus on apple cider vinegar-treated forearms (p = 0.60). At 2 weeks, the skin bacterial microbiomes of healthy control subjects were not significantly different from the skin bacterial microbiome of atopic dermatitis subjects (p = 0.14, 0.21, 0.12, and 0.05). CONCLUSIONS: Our results suggest that daily soaks in 0.5% apple cider vinegar are not an effective method of altering the skin bacterial microbiome in atopic dermatitis. Further studies are needed to explore the effects of different concentrations of apple cider vinegar on skin microflora and disease severity. TRIAL NUMBER: UVA IRB-HSR #19906.

Solitary asymptomatic lobular perianal nodule on an infant.

Folliculosebaceous cystic hamartoma (FSCH) is a benign lesion that presents as a solitary papule or nodule that typically affects the face and scalp of adults. A few reports have observed a congenital presentation. We present an infant boy exhibiting a tumor with overlap features between an FSCH and fibrofolliculoma in the perianal region that was first noticed at 6 months of age. The histological examination showed a hamartomatous benign proliferation of hair follicles and disordered sebaceous glands, which is consistent with the infundibular structures and radiating sebaceous glands that are typically observed in previously reported cases of FSCH. Sebaceous differentiation is a hallmark feature of FSCH. Folliculosebaceous cystic hamartoma is believed to be a late-stage form of trichofolliculoma (TF). Another consideration is that FSCH and TF are two distinct entities set apart by their degree of sebaceous or follicular differentiation and development of the mesenchymal stroma.

Cutaneous findings of familial cerebral cavernous malformation syndrome due to the common Hispanic mutation.

Familial cerebral cavernous malformations due to the common Hispanic mutation (FCCM1-CHM) is an endemic condition among the Hispanic population of the Southwestern United States associated with significant morbidity and mortality. Cutaneous vascular malformations (CVMs) can be found in individuals with FCCM1-CHM, but their morphology, prevalence, and association with cerebral cavernous malformations (CCMs) has not been well characterized. A cross-sectional study of 140 individuals with confirmed FCCM1-CHM was performed with statistical analyses of CVM, CCM, and patient characteristics. We then compared these findings to other cohorts with Familial cerebral cavernous malformations (FCCM) due to other mutations. We observed a higher overall prevalence and a different predominant morphological subtype of CVM compared to previous FCCM cohorts. While the number of CVMs was not a reliable indicator of the number of CCMs present, each person with one or more CVMs had evidence of central nervous system (CNS) disease. Awareness of the morphology of these cutaneous lesions can aid in the diagnosis of individuals with FCCM-CHM in Hispanic patients or those with family history of CCM.