Faculty Bibliography

Ticks are a well-known vector for viral, bacterial, and rickettsial infections, many of which are accompanied by cutaneous eruptions, but the bite itself can induce a spectrum of inflammatory reactions, including foreign body granuloma, tick bite alopecia, and cutaneous lymphoid hyperplasia. We describe the development of an indeterminate cell histiocytic infiltrate at the site of a tick bite. Although the etiology of intermediate cell histiocytosis is not well understood, this case raises the possibility that such infiltrates may represent an inflammatory reaction in some patients.

Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive, inborn error of bile acid metabolism characterized by diarrhea in infancy, juvenile cataracts in childhood, tendon xanthomas developing in the second to third decades of life, and progressive neurologic dysfunction in adulthood. The condition is caused by mutations in the CYP27A1 gene that result in decreased production of chenodeoxycholic acid (CDCA) and elevated levels of cholestanol and bile alcohols. We present a 36-year-old male of Han ethnicity who developed xanthomas of his Achilles tendons and suffered neurocognitive declines and gait deterioration in his second decade. The diagnosis of CTX was confirmed by marked elevation of the serum cholestanol level. Sequencing of CYP27A1 showed a paternally inherited splice mutation, c.446 + 1G>T, and a maternally inherited nonsense mutation, c.808C>T, predicting p.(Arg270*). Despite the advanced disease in this patient, treatment with CDCA reduced the xanthoma size and improved his cognition and strength, and the patient made significant gains in his ambulation and coordination. We report this case to illustrate the potential benefits of therapy in patients with CTX who have advanced disease at the time of diagnosis.

Objective: In this study, we assess the readability and suitability of eczema action plans (EAPs), which may impact their efficacy in patients of low literacy.1 Methods: This is a descriptive study of 27 EAPs used in the U.S. EAPs were volunteered by Society for Pediatric Dermatology members following an organization-wide recruitment e-mail. Outcomes included readability asmeasured by compositing Fleischer Reading Ease Score, Fleisch-Kincaid Grade, Gunning Fog, Simple Measure of Gobbledygook, and Forcast. Suitability was assessed through two physician raters using the Suitability Assessment of Materials (SAM), with a score >0.4 judged as adequate and <0.4 as unsuitable. Results: The mean reading grade level of the surveyed plans was 8.61 (range: 5.50-11.55). Only 20%of the studied plans fell at or below a 6th grade reading level, recommended for patient educational materials. The mean suitability score was 0.61 (range: 0.23- 0.83). Two EAPs (7%) received an unsuitable score. 93%of EAPs received an unsuitable score in at least one category, most commonly "Relevance of Illustrations" (89%), "Summary or Review Included" (41%), and "Subheadings or Chunking Used" (26%). Conclusions: Based on this nationwide sampling of eczema action plans, these documents are often formulated in a manner inappropriate for a general audience. Use of clear organization and an awareness of plain diction and imagery in eczema action plans could increase patient understanding of and adherence to their plans

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.

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.

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