Faculty Bibliography

Introduction: The development of recombinant human growth hormone (rhGH) has allowed for treatment of various growth disorders. Overall, rhGH is well tolerated but allergic skin reactions may occur to either rhGH itself or more commonly to preservatives like benzyl alcohol, m-cresol or phenol. In addition, nonallergic reactions such as exacerbation of preexisting skin disease has also been rarely reported. We report a case of a child with idiopathic short stature (ISS), developing skin rash after first dose of rhGH posing clinical dilemma of allergic reaction vs nonallergic exacerbation of preexisting skin conditions. Case Report: A 12 year old healthy Hispanic boy presented with short stature. His height was 141cm (-2.28SD), weight 46kg (+0.61SD) with growth velocity of 2 cm/year. He had a normal physical examination and lacked dysmorphic features. He was Tanner 2 for pubic hair with testicular volume of 8cc. Routine hemogram, liver, renal function tests and urinalysis were normal. Endocrine work up showed a normal FT4, TSH, IGF1 and IGFBP3. Bone age was 12 years with predicted adult height of 161cm (-2.2 SD) and midparental height of 165cm. GH stimulation test showed a peak of 17.8 ng/ml. An MRI of the brain was normal. His past medical history was pertinent for atopic dermatitis limited to the flexural creases and well controlled without the need of topical treatments. He had no known allergies. He was diagnosed to have ISS and rhGH (Saizen Serano) was started at 0.27 mg/kg/week (1.2 mg/day). He was given first dose in the right thigh at home. He developed a rash after 15 minutes that consisted of small, pruritic papules localized to chest and upper abdomen without a rash at the injection site. His pruritus subsided after application of hydrocortisone ointment and oral Benadryl. This rash gradually diminished and disappeared within 48 hrs. The rhGH was discontinued immediately because of concern of allergic reaction. Mild eosinophilia with normal serum levels of serum IgE and IgG was noted. Pediatric dermatologist consult revealed xerosis and pinpoint, skin colored papules felt to be consistent with exacerbation of mild follicular based atopic dermatitis. Hence, he was restarted rhGH and supervised for 5 hours. Patient did not develop a recurrence of this skin rash. This confirmed the reaction was not allergic in nature. Patient continues on rhGH for 4 months with improved growth velocity, without side effects. Conclusion: Though rare, allergic and nonallergic skin reactions are known to occur with rhGH. It is important to identify, if the reaction is due to growth hormone molecule itself or one of the preservatives. In addition, flare up of underlying skin disorders should also be considered during evaluation of skin rash during rhGH therapy

Eosinophilic pustular folliculitis (EPF) is a rare cutaneous disorder that typically occurs in three clinical contexts: men, individuals who are immunosuppressed or have human immunodeficiency virus, and infants. A fourth subtype occurring 2 to 3 months after hematopoietic stem cell transplantation (HSCT) has recently been described in several adults. We report two cases of EPF arising in children after HSCT. It is important to recognize this form of EPF after HSCT and differentiate it from graft-versus-host disease since it responds readily to topical steroids and appears to have an excellent prognosis.

Background: Juvenile xanthogranuloma (JXG) is a benign, self-limited disease of infants and children occurring early in life with 20% present at birth. They are firm papules or nodules measuring 5 mm to 2 cm. Early JXGs can be more erythematous, but become increasingly yellow over time. JXGs usually run a benign course with regression by 3-6 years old with potential pigmentary alteration or atrophic scarring upon resolution. Extracutaneous involvement can occur, most commonly in the eye, with children having multiple lesions being at greatest risk. Giant JXGs are a rare variant greater than 2 cmin diameter. Unlike more common JXGs, the giant variant is typically present at birth, at an increased risk of ulceration, and may only partially involute over time. Observation: A 6-week-old male presented with a firm swelling of his right vertex scalp measuring 3 cm x 2 cm. His labor was difficult, given that he was 10 pounds, and after birth, his entire scalp was red and swollen. Over the subsequent 2 weeks, the redness subsided except for one spot that continued to become larger in size. Their pediatrician, an outside dermatologist, and a neurologist evaluated the lesion and ordered an ultrasound, which showed a soft tissue swelling with "fluid" per the mother, but no diagnosis was given. Exam revealed a non-tender nodule stable in size since 2 weeks old with overlying alopecia. Within the nodule, smaller papules were noted with a yellowish hue. A repeat ultrasound was performed which showed a hypodensity within the dermal layer and a hypoechoic collection deep to the dermis, but above the periosteum. Findings were most consistent with a scalp hematoma, specifically a caput secundum. Given that the history and exam findings were atypical for a hematoma, a biopsy was performed which showed a nodular infiltrate of histiocytes consistent with JXG. Evaluation by ophthalmology revealed no ocular involvement. Comment: Giant congenital JXGs are a rare variant of JXGs that can be mistaken for other infantile swellings and tumors including hematomas, infantile hemangiomas, Langerhans cell histiocytosis and other soft tissue neoplasms. Keep this diagnosis in mind when evaluating large congenital tumors in the neonatal period. A "watch and see" approach is still recommended as giant congenital JXGs do spontaneously regress and are not believed to be independently associated with systemic involvement

This report describes the clinical, radiologic, and autopsy findings of a newborn with PHACE syndrome (posterior fossa malformations, hemangioma, arterial anomalies, cardiac defects, and eye anomalies) and fetal alcohol spectrum disorder. To our knowledge, the concurrence of these conditions has not been reported in the literature.

Kaposiform hemangioendothelioma (KHE) is an infiltrative vascular tumor that classically presents in infancy. Management typically focuses on treating Kasabach-Merritt phenomenon (KMP), a disorder of severe and at times life-threatening platelet trapping. However, the morbidity of KHE extends beyond KMP. The infiltrative nature of the tumor can lead to long-term disability and often makes complete surgical resection impossible. We report the case of a 10-year-old boy with a KHE of his right distal thigh who was unable to walk without assistance due to fibrotic change and right knee contracture. He had no laboratory evidence of KMP at the time of representation. Rapamycin was started in hopes of reducing the tumor burden. Within 2 months of therapy, fibrotic areas softened, his contracture nearly resolved, and there was marked improvement in his mobility. Rapamycin has been previously reported to be effective in managing cases of KHE complicated by KMP. Our report emphasizes the role for rapamycin in the treatment of KHE in the absence of KMP through the inhibition of vasculogenesis and fibrotic pathways.

Hair re-pigmentation in adults is a rare phenomenon. We describe a 58-year-old woman who developed hair re-pigmentation on her vertex scalp as a marker of underlying melanoma. Histopathology revealed a nodular melanoma that was surrounding but not invading follicular epithelium. To our knowledge, there have only been 4 other previously published cases describing hair re-pigmentation in the setting of scalp melanoma. Focal hair re-pigmentation in adults should prompt a thorough evaluation for an underlying melanoma.

Autism spectrum disorder (ASD) is a neurodevelopmental condition that effects verbal and nonverbal communication and social cognition and often presents with altered sensory processing, stereotyped behavior, and restricted interests. The prevalence of this diagnosis has increased markedly over the past two decades. Dermatologists undoubtedly will be evaluating and managing more patients with this diagnosis, but there has been little written regarding the dermatologic care of patients with ASD. Difficulties with communication and sensory processing create significant challenges in clinical evaluation and management. Individuals with ASD are also at higher risk for certain dermatologic conditions. This review is intended to build an awareness of the complexity of caring for individuals with ASD and discuss strategies that can help improve the dermatologic care of these patients.