The management of pediatric hidradenitis suppurativa differs between dermatologic and non-dermatologic providers: A retrospective review.

BACKGROUND/OBJECTIVES: There is a paucity of pediatric hidradenitis suppurativa (HS) literature. The objective of this study was to characterize differences in management of pediatric HS patients by dermatology versus non-dermatology clinicians. METHODS: We examined a retrospective cohort of 195 pediatric patients with HS seen at our institution (3/1/19-3/1/20). Two-sample t-tests and two-proportion z-tests were performed. RESULTS: A total of 76.1% of subjects were seen by dermatology at least once, and of these, 79.1% were referred. HS diagnosis was most often made by dermatology (36.6%), followed by pediatrics (21.6%). Patients managed by dermatology were significantly more likely to have used standard of care therapies (p < .001). Of dermatology-managed patients, 19.7% were currently prescribed a biologic, as compared with zero patients not managed by dermatology. Those managed by dermatology were less likely to undergo surgical excision (13.3% vs. 25.5%, p = .04). CONCLUSIONS: Our results support increased likelihood of treatment escalation with medical management by dermatologists. Relatively high utilization of referral to dermatology exists, but with only moderate patient adherence. There is a need for improved access to dermatologic care and prospective studies to determine whether differences in specialty management translate to improved patient outcomes.

A case series of live attenuated vaccine administration in dupilumab-treated children with atopic dermatitis.

BACKGROUND AND OBJECTIVE: Current regulatory labeling recommends avoiding live vaccine use in dupilumab-treated patients. Clinical data are not available to support more specific guidance for live or live attenuated vaccines administration in dupilumab-treated patients. METHODS: Children (6 months-5 years old) with moderate-to-severe atopic dermatitis (AD) enrolled in a phase 2/3 clinical trial of dupilumab (LIBERTY AD PRESCHOOL Part A/B; NCT03346434) and subsequently participated in the LIBERTY AD PED-OLE (NCT02612454). During these studies, protocol deviations occurred in nine children who received measles, mumps, rubella (MMR) vaccine with or without varicella vaccine; five with a ≤12-week gap between dupilumab administration and vaccination and four with a >12-week gap after discontinuing dupilumab. RESULTS: Nine children (1 female; 8 male) had severe AD at baseline (8-56 months old). Of the nine children, five had a ≤12-week gap ranged 1-7 weeks between dupilumab administration and vaccination who received MMR vaccine (n = 2) or MMR and varicella vaccines (n = 3); among these, one resumed dupilumab treatment as early as 2 days and four resumed treatment 18-43 days after vaccination. No treatment-emergent adverse events, including serious adverse events and infections, were reported within the 4-week post-vaccination period in any children. CONCLUSIONS: In this case series of dupilumab-treated children with severe AD who received MMR vaccine with or without varicella vaccine, no adverse effects (including vaccine-related infection) were reported within 4 weeks after vaccination. Further studies are warranted to evaluate the safety, tolerability, and immune response to live attenuated vaccines in dupilumab-treated patients.

Characteristics and complications of anogenital infantile hemangiomas: A multicenter retrospective analysis.

BACKGROUND: Infantile hemangiomas (IHs) of the anogenital region remain poorly characterized. OBJECTIVE: To examine the distribution, ulceration rate, and associated congenital anomalies of anogenital IHs. METHODS: Retrospective study at 8 tertiary referral centers. RESULTS: A total of 435 infants with an IH of the anogenital region were enrolled (of which, 319 [73%] were girls). Congenital anomalies were present in 6.4% (n = 28) of infants with an anogenital IH. Segmental or partial segmental anogenital IHs ulcerated in 72% (n = 99 of 138) of infants, whereas 45% (n = 133 of 297) of focal anogenital IHs experienced ulceration (P < .001). In a multivariable logistic regression analysis, segmental or partial segmental morphology (adjusted odds ratio [aOR], 2.70; 95% CI, 1.60-4.64), mixed type (aOR, 3.44; 95% CI, 2.01-6.07), and perianal (aOR, 3.01; 95% CI, 1.53-6.12) and buttocks location (aOR, 2.08; 95% CI, 1.17-3.76) had increased odds of ulceration. Segmental or partial segmental IHs of the genitalia were confined to distinct anatomic territories and were predominantly distributed unilaterally, with a linear demarcation at the perineal raphe. LIMITATIONS: Possible selection bias, given recruitment at tertiary referral centers. CONCLUSION: This study improves our understanding of high-risk features of anogenital IHs and demonstrates that genital segmental or partial segmental IHs develop within distinct anatomic territories.

Congenital erosive and vesicular dermatosis healing with reticulated and supple scarring: Two cases secondary to fungal infection.

Congenital erosive and vesicular dermatosis (CEVD) is a rare skin condition that most commonly presents as erosive and vesicular lesions on the trunk and extremities in premature infants and heals with characteristic reticulated and supple scarring (RSS). The exact pathogenesis of CEVD is unknown and is typically a diagnosis of exclusion. We present the cases of two extremely premature neonates with Candida septicemia who were found to have diffuse, erythematous skin eruptions shortly after birth that ultimately healed with RSS. Through these cases, we highlight the importance of including fungal infection in the work-up of CEVD healing with RSS.

Hidradenitis suppurativa presenting as mammillary fistula in a teenage girl.

Hidradenitis suppurativa (HS) is a common skin disease in children and young adults. In this report, we describe an unusual case of HS presenting as a mammillary fistula (MF) in a teenage female. A thorough dermatologic history and exam resulted in diagnosis of HS. Identifying the underlying disease is key to appropriate treatment of a relapsing MF in the setting of HS.

Pathologic acne in pre-pubertal children: A case series and review on when to refer to pediatric endocrinology.

Acne vulgaris is an extremely common chronic disease of the pilosebaceous unit. Despite its ubiquity, acne in the childhood years of approximately ages 1-6 years is exceedingly rare. Physicians should be suspicious of underlying systemic disease processes in patients of this age who present with onset of acne lesions, as pre-pubertal acne in childhood has a distinctly different pathology than that of other age groups. Through a case series, we highlight the importance of a thorough work-up and provide a review on when to refer to pediatric endocrinology to rule out precocious puberty and tumors as the cause of pre-pubertal acne.

Case report of severe refractory inflammatory dermatoses in a young female diagnosed with hereditary alpha tryptasemia.

Hereditary alpha tryptasemia (HaT), an autosomal dominant condition first described in 2014, has previously been associated with multiple dermatologic, allergic, gastrointestinal, neuropsychiatric, autonomic, and connective tissue abnormalities. We describe a pediatric patient with predominantly mixed cutaneous inflammatory manifestations and atopic manifestations resistant to treatment who was found to have HaT. HaT should be considered in individuals with refractory inflammatory dermatologic disease and signs and/or symptoms concerning for mast cell activation.

Cutaneous mosaic RASopathies associated with rhabdomyosarcoma.

Variants in RAS are known drivers of certain pediatric blood and solid cancers, including brain tumors. Though most RAS-driven cancers are thought to occur sporadically, genetic syndromes caused by germline RAS variants portend a slightly higher risk of rhabdomyosarcoma (RMS) development. Three new cases and a review of the literature demonstrate that in rare cases, certain somatic RAS variants are associated with an increased risk of RMS and that RMS development may be heralded by the presence of concomitant RAS-driven birthmarks. Further prospective studies are needed to establish incidence and recommend appropriate monitoring guidelines for patients at risk.

Keratosis pilaris in collagen type VI-related disorders.

Keratosis pilaris is a common skin condition associated with a number of syndromes, including collagen type VI-related disorders. Our patient, recently diagnosed with Ullrich congenital muscular dystrophy, presented with severe keratosis pilaris, hypotonia, and velvety skin on the palms and soles. We present this case to highlight the importance of including cutaneous findings, such as keratosis pilaris, to aid in the diagnosis when evaluating patients with syndromic features.

Treatment of Pediatric Pyoderma Gangrenosum With Modified Negative Pressure Wound Therapy and Intralesional Corticosteroids: A Case Report.

BACKGROUND: Pyoderma gangrenosum (PG) is a rare ulcerative skin disease; its etiology is unknown, though it is often associated with autoimmune diseases. Pyoderma gangrenosum results in significant morbidity and exquisite pain that affects health-related quality of life. Wound healing is delayed, and patients often experience relapse. Pyoderma gangrenosum is susceptible to pathergy and deterioration with surgical intervention or other trauma; therefore, treatment includes atraumatic wound care, infection management, and local or systemic immunosuppression. CASE: We describe the use of modified negative pressure wound therapy (NPWT) with intralesional and topical steroids for the treatment of PG in a 15-year-old female patient with ulcerative colitis and a staged J-pouch ileoanal reconstruction. The patient and her family refused all systemic therapy due to prior steroid-associated weight gain. She was unable to tolerate conscious dressing changes, further complicating the treatment plan. Procedural interventions such as NPWT have been used previously for PG; however, they can cause wound pathergy and subsequent wound deterioration. Modified NPWT in conjunction with topical and intralesional steroids induced wound healing without producing pathergy. CONCLUSION: Timely recognition of PG is crucial to appropriate delivery of care. Modified NPWT and localized corticosteroid treatment were key to promoting wound healing in this case of pediatric PG.

Atypical aplasia cutis in association with Xia Gibbs syndrome.

Xia Gibbs syndrome is a genetic disorder first defined in 2014 characterized by hypotonia, intellectual disability, global developmental delay, and dysmorphic facial features. While many additional features may be present, there are few reports of dermatologic findings. We report a case of atypical aplasia cutis in a female infant who was found to have Xia Gibbs syndrome. This case highlights consideration of cutaneous manifestations of Xia Gibbs syndrome which may aid in diagnosis.

Psoriasiform dermatitis following intravenous immunoglobulin therapy: A case series.

Intravenous immunoglobulin (IVIg) is a frequently used treatment modality in the pediatric inpatient population for acute diseases such as Kawasaki disease and Stevens-Johnson syndrome. There are few reported cutaneous adverse events after IVIg in the pediatric population. Here, we present two patients with psoriasiform dermatitis appearing after IVIg treatment for two different disease processes, Kawasaki disease and mycoplasma-associated mucositis, suggesting an association with the treatment instead of the disease process.

Neonatal lupus erythematosus presenting as orolabial ulcerations: Two cases and a review of the literature.

We report two unrelated infants who presented with orolabial ulcerations as a presenting manifestation of neonatal lupus erythematosus (NLE). Subsequent positive anti-SSA/SSB titers confirmed the diagnosis. In both infants, the ulcerations were painless and spontaneously resolved. NLE should be included in the differential diagnosis of orolabial ulcerations in the newborn, especially since mothers of affected infants may be asymptomatic.

Hair and skin predict cardiomyopathies: Carvajal and erythrokeratodermia cardiomyopathy syndromes.

Carvajal and erythrokeratodermia cardiomyopathy syndromes (EKC) are rare, inherited cardiocutaneous disorders with potentially fatal consequences in young children. Some patients display features of congestive heart failure and rapidly deteriorate; others exhibit no evident warning signs until sudden death reveals underlying heart disease. We present two patients to illustrate the characteristic hair, skin, teeth, and nail abnormalities, which-especially when distinct from that of other family members-should prompt cardiac evaluation and genetic analysis. In this article, we discuss established treatments as well as a promising, novel therapeutic that has led to nearly complete resolution of the cutaneous and cardiac pathology in EKC syndrome.

Hemangioma-related syndromes.

PURPOSE OF REVIEW: There is a growing understanding of complications and anomalies associated with infantile hemangiomas. The current review will discuss recent clinical advances in syndromes associated with segmental hemangiomas, including PHACE and LUMBAR syndrome. In addition, the importance of recognizing visceral hemangiomatosis is highlighted. RECENT FINDINGS: Ongoing longitudinal studies of PHACE and LUMBAR syndromes associated with segmental infantile hemangiomas have led to improved diagnosis and recommendations for screening for associated anomalies. Characterization of a growing spectrum of associated anomalies as well as better classification of at-risk patients will improve diagnosis and outcomes. In addition, visceral hemangiomatosis recognition and understanding of the potential association with consumptive hypothyroidism will improve initiation of appropriate screening. SUMMARY: Clinicians should be aware of infantile hemangiomas associated with potential syndromic complications and recognize the need to initiate appropriate work-up. Segmental hemangiomas of the head and neck region may indicate a risk of PHACE syndrome and associated developmental anomalies. Although LUMBAR syndrome is the association of lower body segmental hemangioma with developmental anomalies. Visceral hemangiomas most commonly affect the liver and may be associated with complications such as consumptive hypothyroidism and heart failure.

Filling in the gaps on FILS syndrome: A case report and literature review.

FILS syndrome (facial dysmorphism, immunodeficiency, livedo, and short stature) is a rare autosomal recessive disorder caused by pathogenic alterations in the POLE gene leading to multisystemic manifestations, including poorly characterized skin findings. We report a child with a homozygous variant, c.100C > T (p.Arg34Cys), in POLE and features consistent with poikiloderma, expanding the dermatologic signs associated with this rare disorder. Additionally, we review reported cases of FILS syndrome, discuss possible pathomechanisms for our patient's presentation, and consider implications for management.

Use of secukinumab in a pediatric patient leads to significant improvement in nail psoriasis and psoriatic arthritis.

Many pediatric psoriasis patients suffer from nail involvement and psoriatic arthritis. In adults, biologic agents have demonstrated success in treating refractory nail psoriasis and arthritis, but studies are limited in children. In this report, we present a pediatric patient with severe, recalcitrant nail and joint psoriasis, successfully treated with secukinumab.

Successful treatment of facial milia in an infant with orofaciodigital syndrome type 1.

We report the successful treatment of multiple facial milia with manual extraction and tretinoin in a child with orofaciodigital syndrome type 1. Treatment with topical medications may be insufficient in individuals with orofaciodigital syndrome type 1, and pitted scarring is often a sequala. This case demonstrates that manual extraction is well tolerated and effective in the treatment of multiple milia. In addition, clinicians need to be aware of this rare genetic condition, which commonly presents de novo and can lead to significant morbidity if untreated.

Phacomatosis Pigmentokeratotica: A Mosaic RASopathy with Malignant Potential.

Phacomatosis pigmentokeratotica (PPK) is a rare epidermal nevus syndrome characterized by the co-occurrence of a nevus sebaceous arranged along the lines of Blaschko with a speckled lentiginous nevus (SLN). We report a novel KRAS mutation in a patient with a large nevus sebaceous and an SLN who subsequently developed a vaginal botryoid rhabdomyosarcoma, an association not previously reported in the literature. This case expands our knowledge of the genetic basis for phacomatosis, in which mutations in HRAS have been previously described, although this report provides evidence that activating mutations in KRAS or HRAS may cause PPK. This report confirms that PPK is a mosaic RASopathy with malignant potential and raises the question of whether screening for other RAS-associated malignancies should be performed for all children with PPK.