Epidermal nevi and epidermolytic hyperkeratosis: A review of cases, highlighting indications for biopsy and genetics referral.

Epidermal nevi are common benign cutaneous hamartomas that may rarely demonstrate histopathologic evidence of epidermolytic hyperkeratosis (EHK), representing cutaneous mosaicism for pathogenic keratin variants. Rarely, individuals with linear epidermal nevi transmit to their children the inherited form of EHK, also known as epidermolytic ichthyosis, characterized by generalized erythema, blistering, and scaling at birth evolving to widespread hyperkeratosis. We present an updated review of reported cases of linear epidermal nevi with EHK exhibiting transmission of epidermolytic ichthyosis to guide important considerations in the care of individuals with epidermal nevi. Clinical characteristics of linear epidermal nevi do not reliably predict the presence of EHK. All reported cases of transmission to offspring have occurred in individuals with linear epidermal nevi involving more than one anatomic area suggesting increased reproductive risk with involvement of two or more anatomic sites. Therefore, genetics consultation is recommended for these individuals with biopsy-confirmed EHK. For individuals with smaller areas of epidermal nevus involvement, the implications are less well known, though genetics consultation may still be considered for those interested in further discussion of general reproductive risk.

Paired unilateral scapular pits in a neonate.

Congenital skin pits have been observed as a sporadic anatomic variant as well as in association with trauma, maternal infection, genetic syndromes, and metabolic disorders. We present a case of a neonate with paired unilateral scapular pits, which to our knowledge has not yet been reported. Although this is favored to be a benign finding in an otherwise healthy baby, we review important considerations in the clinical evaluation of a neonate with congenital skin pitting.

Atypical keratosis pilaris-like lesions in a patient with Bethlem myopathy.

Bethlem myopathy is a collagen VI-related myopathy. Collagen VI is primarily not only associated with the extracellular matrix of skeletal muscle, but is also found in the skin, blood vessels, and other organs. Dermatologic findings described for Bethlem myopathy include follicular hyperkeratosis and abnormal scar formation, although clinical and histopathologic photographs remain elusive in the literature. We present a case of atypical keratosis pilaris-like follicular lesions in a patient with Bethlem myopathy and provide histopathologic correlation to better characterize the development of skin lesions in this rare neuromuscular disease.

Congenital cutaneous non-neural granular cell tumor mimicking herpetic infection: Case report and review of the literature.

We present a case of a female neonate with a cluster of six skin colored to yellowish pseudovesicular papules on her right forearm present since birth, initially thought to be a herpes simplex virus infection. Punch biopsy with immunostaining revealed a diagnosis of S100-negative, CD163-positive congenital cutaneous non-neural granular cell tumor. Only four other reports are presented in the literature of this entity, three of which also presented on the arm with somewhat similar clinical findings. We briefly reviewed the subtypes of classic and S100-negative non-neural granular cell tumors.

Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes.

Van der Woude syndrome is the most common form of syndromic orofacial clefting, accounting for 1-2% of all patients with cleft lip and/or cleft palate. Van der Woude and popliteal pterygium syndromes are caused by mutations in IRF6, but phenotypic variability within and among families with either syndrome suggests that other genetic factors contribute to the phenotypes. The aim of this study was to identify common variants acting as genetic modifiers of IRF6 as well as genotype-phenotype correlations based on mutation type and location. We identified an association between mutations in the DNA-binding domain of IRF6 and limb defects (including pterygia). Although we did not detect formally significant associations with the genes tested, borderline associations suggest several genes that could modify the VWS phenotype, including FOXE1, TGFB3, and TFAP2A. Some of these genes are hypothesized to be part of the IRF6 gene regulatory network and may suggest additional genes for future study when larger sample sizes are also available. We also show that families with the Van de Woude phenotype but in whom no mutations have been identified have a lower frequency of cleft lip, suggesting there may be locus and/or mutation class differences in Van de Woude syndrome.

Scrotal calciphylaxis in a fifty-one-year-old man with end-stage renal disease and prior bacteremia.

Isolated, ischemic scrotal lesions are an uncommon manifestation of systemic calciphylaxis. This highly morbid disease seen in patients with end-stage renal disease and other risk factors for small vessel calcification results in tissue necrosis and ulceration. Scrotal calciphylaxis is uncommon and difficult to diagnose in patients with comorbid conditions that cause isolated genital skin lesions, including prior systemic infections. We describe a 51-year-old male with end-stage renal disease on hemodialysis and recent history of bacteremia who developed isolated penile and scrotal ulceration due to calciphylaxis. The patient died two months after presentation despite multidisciplinary care.

Development of a Skin-Directed Scoring System for Stevens-Johnson Syndrome and Epidermal Necrolysis: A Delphi Consensus Exercise.

Importance: Scoring systems for Stevens-Johnson syndrome and epidermal necrolysis (EN) only estimate patient prognosis and are weighted toward comorbidities and systemic features; morphologic terminology for EN lesions is inconsistent. Objectives: To establish consensus among expert dermatologists on EN terminology, morphologic progression, and most-affected sites, and to build a framework for developing a skin-directed scoring system for EN. Evidence Review: A Delphi consensus using the RAND/UCLA appropriateness criteria was initiated with a core group from the Society of Dermatology Hospitalists to establish agreement on the optimal design for an EN cutaneous scoring instrument, terminology, morphologic traits, and sites of involvement. Findings: In round 1, the 54 participating dermatology hospitalists reached consensus on all 49 statements (30 appropriate, 3 inappropriate, 16 uncertain). In round 2, they agreed on another 15 statements (8 appropriate, 7 uncertain). There was consistent agreement on the need for a skin-specific instrument; on the most-often affected skin sites (head and neck, chest, upper back, ocular mucosa, oral mucosa); and that blanching erythema, dusky erythema, targetoid erythema, vesicles/bullae, desquamation, and erosions comprise the morphologic traits of EN and can be consistently differentiated. Conclusions and Relevance: This consensus exercise confirmed the need for an EN skin-directed scoring system, nomenclature, and differentiation of specific morphologic traits, and identified the sites most affected. It also established a baseline consensus for a standardized EN instrument with consistent terminology.

Dramatic Improvement of Trichotillomania with 6 Months of Treatment With N-Acetylcysteine.

We present a case of a 17-year-old male with recurrent hair twirling resulting in patchy alopecia, who improved dramatically on N-acetylcysteine (NAC). Trichotillomania is characterized by repetitive hair pulling, twisting, or twirling and can vary from a mild habit to an impulse-control disorder. Standard treatment for pediatric trichotillomania includes cognitive behavioral therapy or medical therapy with selective serotonin reuptake inhibitors. NAC is a more recently utilized, safe, and well-tolerated over-the-counter supplement with some evidence of benefit for habitual skin and hair disorders. For this patient, we recommended 600 mg twice daily, increasing to 1200 mg twice daily as tolerated. After 6 months, our patient reported decreased desire to twirl his hair and his hair had almost completely regrown. Pediatricians who see patients with trichotillomania or other habitual disorders can consider treating these patients with NAC given its potential benefits and favorable side effect profile.

Postictal Petechiae as a Cutaneous Manifestation Following Generalized Tonic-Clonic Seizures.

Identifying cutaneous manifestations associated with systemic diseases is a crucial task for dermatologists and other providers in the outpatient and inpatient settings. Here, we present a rare case of postictal petechiae occurring after a generalized tonic-clonic seizure in a patient with poorly controlled epilepsy. This case illustrates a unique and underrecognized entity that may serve as the only cutaneous clue to assist in the diagnosis of recent seizure activity.

Not COVID Toes: Pool Palms and Feet in Pediatric Patients.

So-called COVID toes is probably the most publicized cutaneous manifestation of COVID-19. The parents of 4 patients pursued dermatology evaluation with concerns about COVID-19 infection in their children who presented with symmetric, focal, erythematous lesions of the hands or feet, or both. We elicited a history of extended time in swimming pools for the 4 patients that was associated with COVID-19 restrictions during summer months of the pandemic and recognized findings of frictional and pressure-induced erythema and scaling, leading to a diagnosis of pool palms and feet-an extension of pool palms. It is important to recognize this diagnosis and provide reassurance to the patients and caregivers because the condition warrants no notable workup or therapeutic intervention.

Management of Severe Atopic Dermatitis in Pediatric Patients.

Atopic dermatitis is a common, chronic inflammatory skin disorder, present in about 12% of children worldwide. Optimizing management of severe atopic dermatitis in pediatric patients is critical to reduce signs of inflammation, alleviate pruritus and sleep disturbance, minimize the development and/or impact of comorbidities, and improve the patient and caregiver's quality of life. Evaluating the longitudinal severity of pediatric atopic dermatitis is an important component of measuring therapeutic response and long-term management, and is different in clinical practice versus clinical trials. This article describes when and how to use different treatments for pediatric patients with severe atopic dermatitis, including topical medications, phototherapy, and systemic medical therapies (traditional immunosuppressants, biologics, and small molecule inhibitors). It also provides recommendations useful in clinical practice for nonpharmacologic interventions for pediatric patients with severe atopic dermatitis.

Sunscreens: An Update.

Sunscreens have been widely used by the general public for their photoprotective properties, including prevention of photocarcinogenesis and photoaging and management of photodermatoses. It is important to emphasize to consumers the necessity of broad-spectrum protection, with coverage of both ultraviolet A (320-400 nm) and ultraviolet B (290-320 nm) radiation. This review discusses the benefits of sunscreen, different ultraviolet filters, sunscreen regulations and controversies, the importance of broad-spectrum protection, issues of photostability and formulation, and patient education and compliance.