Localization and age distribution of telangiectases in children and adolescents with hereditary hemorrhagic telangiectasia: A retrospective cohort study.

BACKGROUND: The location of telangiectases in hereditary hemorrhagic telangiectasia (HHT), as set forth in the consensus diagnostic (Curaçao) criteria, is based primarily on adults. OBJECTIVE: Document the locations and numbers of telangiectases in a cohort of pediatric patients with HHT. METHODS: A retrospective chart review using a standardized data collection form for site and number of telangiectases was performed for pediatric patients with HHT (age, 0-18 years) from 2005 to 2016. RESULTS: Of 90 pediatric patients with HHT, 71% had one or more telangiectases. Of all the telangiectases counted (N = 319), cutaneous telangiectases were more common (73%) than oral telangiectases (27%). The hands were the most frequent site, accounting for 33% of all telangiectases. Adolescents were more likely than children to have cutaneous telangiectases (85% vs 50% [Q = 0.005]). The most frequent sites in children younger than 10 years were the hands excluding the fingers (27%), fingers (25%), and face (23%). Only 23% of subjects (21 of 90) presented with multiple (≥3) telangiectases at locations considered characteristic for the current consensus diagnosis guidelines (lips, oral cavity, and fingers). LIMITATIONS: Ascertainment bias based on recruitment. CONCLUSIONS: In this pediatric population, telangiectases at sites not included as "characteristic" by the Curaçao diagnostic criteria were common. The Curaçao criteria in regard to both number and location of telangiectases may be inadequate in the pediatric HHT population.

Reversible profound sensorineural hearing loss due to propranolol sensitive hemangioma in an infant with PHACE syndrome.

PHACE syndrome is the association of large or segmental infantile hemangiomas of the face or scalp with abnormalities within the posterior fossa, arteries, cardiovascular system, and eyes. We present a case of reversible profound sensorineural hearing loss due to a cerebellopontine angle infantile hemangioma that was successfully treated with propranolol.

Ventral midline blanching in the setting of segmental infantile hemangiomas: clinical observations and pathogenetic implications.

Areas of blanched skin in children may be seen as an independent finding or in association with vascular birthmarks. We performed a retrospective chart review to identify and describe infants with areas of ventral midline blanching in the presence of segmental infantile hemangiomas. We identified nine full-term infants with partial or full segmental hemangiomas and areas of midline ventral blanching. Additional ventral wall defects were seen in five patients. Six had cardiac anomalies and six had intracranial anomalies. Five were diagnosed with definite PHACE (posterior fossa, hemangioma, arterial, cardiac, and eye abnormalities) syndrome and three had possible PHACE syndrome. Eight were complicated by ulceration. Treatment varied according to the case. Ventral blanching, even in the absence of overt midline defects, can be seen in infants with segmental hemangiomas at risk for PHACE syndrome. We hypothesize that midline blanching may represent a minor manifestation of a developmental ventral defect.

Intractable localized pruritus as the sole manifestation of intramedullary tumor in a child: case report and review of the literature.

IMPORTANCE: Persistent localized pruritus is a rare manifestation of central nervous system tumors. Delayed diagnosis can lead to devastating complications. OBSERVATIONS: We report an otherwise healthy 19-month-old girl who presented with signs of localized intractable pruritus of 6 months' duration on the left side of the neck, shoulder, and arm, resistant to systemic antihistamines and topical corticosteroids. Findings from skin biopsy, viral culture for varicella-zoster virus, and skin prick test to common food and animal allergens were nondiagnostic. Neurologic examination results were unremarkable. After several months of localized intractable pruritus, magnetic resonance imaging of the cervical spine with and without contrast was performed, which revealed an intramedullary spinal cord tumor extending from just above the foramen magnum to C6. The tumor was surgically resected and found to be a ganglioglioma. Within a week after the surgery her pruritus completely resolved. CONCLUSIONS AND RELEVANCE: We recommend a detailed neurologic examination in any case of persistent localized pruritus, in the absence of primary dermatologic causes. Given the challenges of performing a reliable neurologic examination in children, neuroimaging might be considered in children with intractable localized pruritus of unknown etiology of the head and neck or upper extremity, even in the absence of focal neurologic deficits.

Rat bite fever: fever, arthritis, and rash in a 4-year-old boy.

Rat bite fever is a rare but potentially fatal Gram-negative infection that predominantly affects populations with exposure to rats, notably children. The clinical presentation is nonspecific and requires a high threshold of suspicion to elicit a history of rat exposure. We report here a case of a child whose diagnosis was made retrospectively but with good outcome.

Basal cell carcinoma arising in a nevus sebaceus in a child with facial trichoepitheliomas.

Nevus sebaceus (NS) is a congenital skin hamartoma that presents in childhood. Tumors may arise within these lesions over time. Mutations in the PTCH gene have been associated with both NS and some of the developing tumors. Only nine documented cases of basal cell carcinoma arising in nevus sebaceus in childhood are available. We present a case of an 8-year-old male with nevus sebaceus who developed a basal cell carcinoma. Evaluation for constitutional PTCH gene mutation and loss of heterozygosity (LOH) from the BCC within the NS did not reveal an underlying mutation. We further discuss the literature regarding prophylactic excision of NS.

Neonatal pemphigus in an infant born to a mother with serologic evidence of both pemphigus vulgaris and gestational pemphigoid.

Neonatal pemphigus is a rarely reported transitory autoimmune blistering disease caused by transfer of maternal IgG autoantibodies to desmoglein 3 to the neonate through the placenta when the mother is affected with pemphigus. It is clinically characterized by transient flaccid blisters and erosions on the skin and, rarely, the mucous membranes. Neonatal pemphigus vulgaris has never been reported to persist beyond the neonatal period and progress to adult disease. Gestational pemphigoid is an uncommon, pregnancy-associated, autoimmune blistering disease. This disease typically flares with delivery and then spontaneously resolves within months without treatment. In 5% to 10% of cases, the antibodies responsible for gestational pemphigoid are transferred to the neonate through the placenta, causing transitory blistering in the neonate. While both gestational pemphigoid and pemphigus vulgaris can occur during pregnancy, these clinically, histologically, and serologically distinct diseases are not known to occur simultaneously in the same patient. We describe a case of a 36-year-old woman with clinical evidence of mucocutaneous pemphigus, but not gestational pemphigoid, who had serum antibodies to the antigens responsible for pemphigus as well as those responsible for gestational pemphigoid. This patient gave birth to a neonate with neonatal pemphigus but no evidence of neonatal gestational pemphigoid.

Lipodystrophia centrifugalis abdominalis infantilis in a Caucasian girl: report of a case with perieccrine inflammation.

Lipodystrophia centrifugalis abdominalis infantilis (LCAI) is a rare, self-limiting disease typically affecting Asian children around the age of three. In classic cases, patients present with a hypopigmented patch with central atrophy and an erythematous border in the groin area. We present a case of LCAI affecting a female Caucasian toddler that shows striking perieccrine inflammation, a finding not previously reported in this entity. LCAI has been rarely reported in Caucasian children; as a result, there is sparse literature on the histopathological findings in this subset. This case illustrates how significant deep dermal and perieccrine inflammation can be seen in this condition, thus broadening the histopathological spectrum of this disorder.

Sweet syndrome in two children.

We report a 9-month-old girl and a 4-year-old boy with acute febrile neutrophilic dermatosis (Sweet syndrome). Both children were febrile, had leukocytosis, and exhibited lesions characteristic of Sweet syndrome. Both had an antecedent infection. Our evaluation and long-term follow-up of these children failed to reveal evidence of underlying malignancy or a chronic systemic illness typically encountered in Sweet syndrome. Of interest, the 4-year-old boy responded to systemic corticosteroids with remission, whereas the 9-month-old infant experienced flaring of the disease on successive attempts to taper the systemic corticosteroids. Systemic corticosteroid usage was associated with alteration in behavior in the 4-year-old and transient growth retardation in the 9-month-old. In both patients, the adverse effects resolved after discontinuation of the corticosteroids.

Refractory Demodex folliculitis in five children with acute lymphoblastic leukemia.

We report five children with acute lymphocytic leukemia on maintenance chemotherapy who had Demodex folliculitis. None experienced complete clearing when treated with permethrin 5% cream. Topical metronidazole helped to lessen the eruption in four, but did not provide full clearing. The one child who was treated with sodium sulfacetamide 10%, sulfur 5% formulation had resolution of the eruption. We suggest that treatment of Demodex folliculitis in children with acute lymphocytic leukemia is more difficult than is suggested in the literature. Newer sodium sulfacetamide/sulfur formulations should be considered when treating this condition, particularly in children with acute lymphocytic leukemia.

Septic, CD-30 positive febrile ulceronecrotic pityriasis lichenoides et varioliformis acuta.

We report life-threatening febrile ulceronecrotic pityriasis lichenoides et varioliformis acuta in an 8-year-old girl. Hemorrhagic-crusted papules and plaques covered over 90% of the patient's body, leaving her susceptible to Pseudomonas aeruginosa and Staphylococcus epidermidis bacteremia as well as Candida parapsilosis fungemia. Sepsis delayed definitive treatment of the underlying cutaneous disease for 2 weeks. Combined therapy with methotrexate and cyclosporin caused remission of the process. Although immunohistochemistry revealed CD-30 positive cells, suggesting the diagnosis of lymphomatoid papulosis, the histopathology was most compatible with pityriasis lichenoides et varioliformis acuta. A partial loss of CD2 and CD5 in the predominant CD3 T-cell lymphocytes suggested a clonal proliferation. Elevated soluble interleukin-2 receptor levels reflected marked T-cell activation, and the downward trend of the levels during treatment coincided with clinical regression of this inflammatory dermatosis.

Vascular stains and hair collar sign associated with congenital anomalies of the scalp.

We reported a series of three meningothelial hamartomas, one benign fibrous tumor, and one aplasia cutis congenita presenting with the hair collar sign and a coexistent vascular stain. Our series highlighted the importance of coexisting cutaneous markers found in the newborn period. The presence of a vascular stain and hair collar sign with or without a congenital scalp nodule should increase suspicion of an associated cranial dysraphism.

Proliferative nodules in congenital melanocytic nevi: a clinicopathologic and immunohistochemical analysis.

Congenital melanocytic nevi (CMN) occur in 1% to 2% of newborns, and the risk of malignant melanoma is increased in patients with large CMN. Appearance at birth or later of a nodular or hyperpigmented area within a CMN simulates malignant melanoma and prompts biopsy. Although their clinical and pathologic features seem ominous, proliferative nodules (PNs) typically are benign and may regress, although atypical features cause greater concern. Here we report clinical and pathologic findings with outcome in 10 children who had multiple biopsies of large CMN with PNs. We reviewed 78 separate samples from the 10 patients and classified the 60 PNs according to published criteria. A subset of 30 samples containing both the CMN and a PNs was analyzed for immunohistochemical reactivity for melanocytic (S-100 protein, HMB45, melan-A), lymphocytic (CD45), cell-cycle/proliferative (Mib-1, p16, p21, p27, c-Myc), apoptotic (p53, Bax, c-kit, CD95), and anti-apoptotic (bcl-2) markers. Both CMN and PNs had similar expression of melanocytic, lymphocytic, and most cell-cycle/proliferative and apoptotic markers, including Mib-1, p16, p21, p27, c-Myc, Bax, CD95, and bcl-2. A greater proportion of PNs than CMN were reactive for p53 (67% vs. 30%, P < 0.0098) and c-kit (97% vs. 3%, P < 0.0001). p53 and p21 expression in CMN and all types of PNs were inversely correlated. When ordinary and atypical PNs were compared, the atypical PNs more frequently expressed p53, Mib-1, Bax, and bcl-2, but less frequently expressed p21. The c-kit expression in nearly all PNs and its absence in nearly all CMN is potentially useful for recognition of PN, suggests a delayed melanocytic maturation process in proliferative nodules, and may be likely indicative of their benign nature. p53 reactivity in concert with a lack of p21 up-regulation by immunohistochemistry suggests that a p53 mutation may be present in PN, although the immunohistochemical findings alone cannot exclude possible overexpression of wild-type p53. Regressive, involutional, or maturational changes were observed in sequential samples from 4 patients. No patient developed malignant melanoma or another melanocytic nevus-associated malignancy during the follow-up period. These findings underscore the similarities between PNs and the underlying CMN and suggest that maturational, proliferative, and apoptotic processes are involved in their clinical evolution.

Aspergillosis in a 24-week newborn: a case report.

Aspergillosis is an uncommon neonatal infection, diagnosed with an increasing frequency over the last two decades. We report a premature neonate who developed aspergillosis while receiving amphotericin B and fluconazole for candidiasis. Despite early recognition and diagnosis, the infant died. We review the clinical appearance of Aspergillus species, the distinctions between primary cutaneous aspergillosis and invasive aspergillosis, and advances in diagnosis and treatment.

Tufted angiomas: variability of the clinical morphology.

In 1989 Wilson Jones and Orkin first described tufted angioma, which has the unifying histologic feature of circumscribed angiomatous tufts and lobules within the dermis. Tufted angioma may take unusual forms clinically. We describe five children less than 3 years of age with tufted angiomas, demonstrating the variability of the morphology of this vascular tumor. Two of the lesions were congenital. Three presented as indurated, vascular-appearing plaques, one of which had associated hypertrichosis. One lesion appeared clinically compatible with a hemangioma of infancy, but continued to enlarge after the child was 32 months old. The remaining lesion was a nearly circumferential, soft tissue tumor of the left forearm with tortuous vessels and a smaller overlying vascular stain. All of these lesions demonstrated the characteristic histology of tufted angioma. The clinical and histopathologic differential diagnosis as well as treatment options for tufted angioma are reviewed.