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.

Cystic fibrosis dermatitis arthritis syndrome: A series of four cases.

Dermatologic manifestations of cystic fibrosis (CF) include nutrient deficiency dermatoses, vasculitis, transient reactive papulotranslucent acrokeratodema, digital clubbing, and increased rates of atopy and drug reactions. Few cases of a characteristic eruption in patients with episodic arthritis of CF have been described with prior reports primarily occurring outside of the dermatology literature. We report four cases consistent with this presentation to add to the literature and propose a new and unifying name to recognize this entity as cystic fibrosis dermatitis arthritis syndrome (CF-DAS). Clinical suspicion should remain high in young female patients with cystic fibrosis presenting with episodic joint pain and rash, independent of pulmonary exacerbations.

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.

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.

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.

Apple cider vinegar soaks [0.5%] as a treatment for atopic dermatitis do not improve skin barrier integrity.

BACKGROUND/OBJECTIVES: Atopic dermatitis (AD) is a common chronic inflammatory skin condition associated with high transepidermal water loss, high skin pH, and Staphylococcus aureus skin colonization. The treatment of AD with bath additives remains highly debated. Recent evidence suggests that dilute apple cider vinegar (ACV) may improve skin barrier integrity in AD, but its safety and efficacy are not well studied. This pilot split-arm study analyzed the effect of dilute apple cider vinegar soaks on skin barrier integrity in patients with atopic dermatitis as measured by skin transepidermal water loss and skin pH. METHODS: A total of 22 subjects (11 AD and 11 healthy controls) were enrolled. Subjects soaked both of their forearms for 14 days, with one arm in dilute ACV (0.5% acetic acid) and the other in water 10 minutes daily. Transepidermal water loss and pH were measured pre- and post-treatment. RESULTS: In both groups, transepidermal water loss increased and pH decreased at 0 minutes post-ACV treatment, but these effects were not sustained at 60 minutes. In total, 72.7% (16/22) of subjects reported mild side effects from ACV with improvement after discontinuing the soaks. CONCLUSIONS: Dilute ACV soaks have no significant effect on skin barrier integrity but caused skin irritation in a majority of subjects. Study limitations include analysis of a single brand, dilution, and application of ACV. Future studies are needed to explore whether lower concentrations of ACV soaks or other applications such as a leave-on acidic ointment could improve skin barrier integrity in a safe, nonirritating way.

RASA1 mutation in a family with capillary malformation-arteriovenous malformation syndrome: A discussion of the differential diagnosis.

We describe a family who presented with several scattered, vascular, cutaneous lesions and was found to have a novel mutation in RASA1, diagnostic of capillary malformation-arteriovenous malformation syndrome. Our patient was initially given a presumptive clinical diagnosis of hereditary hemorrhagic telangiectasia. Capillary malformation-arteriovenous malformation syndrome shares several features with hereditary hemorrhagic telangiectasia and hereditary benign telangiectasia, but it can be distinguished clinically according to its morphologic appearance and distribution of cutaneous vascular lesions, the presence of internal fast-flow lesions, and genetic analysis.

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.