Joseph M. Lam

Timolol Maleate 0.5% or 0.1% Gel‐Forming Solution for Infantile Hemangiomas: A Retrospective, Multicenter, Cohort Study

Abstract:  Therapeutic options for superficial infantile hemangiomas (IH) are limited. Recently, timolol maleate gel, a topical nonselective beta‐blocker, has been reported as a potentially effective treatment for superficial IH. This study is an extension of a previously published pilot study designed to further investigate the efficacy and safety and to identify predictors of good response of topical 0.5% or 0.1% timolol maleate gel‐forming solution. This was a retrospective cohort study including patients enrolled from five centers. Patients were included if they were treated with timolol maleate 0.1% or 0.5% gel‐forming solution and had photographic documentation of the IH and at least one follow‐up visit. Patients with concomitant active treatment using other IH treatments were excluded. The primary endpoint was change in the appearance of IH as evaluated using a visual analog scale (VAS). Data from 73 subjects were available for final analysis. Timolol maleate gel‐forming solution 0.5% was used in 85% (62/73) of patients, the remainder being treated with 0.1%. The median age at treatment initiation was 4.27 months (interquartile range [IQR] 2.63–7.21 mos), and patients were treated for a mean of 3.4 ± 2.7 months. All patients except one improved, with a mean improvement of 45 ± 29.5%. Predictors of better response were superficial type of hemangioma (p = 0.01), 0.5% timolol concentration (p = 0.01), and duration of use longer than 3 months (p = 0.04). Sleeping disturbance was noted in one patient. This study further demonstrates the efficacy and tolerability of topical timolol maleate and gradual improvement with longer treatment in patients with superficial IH.

Zinc deficiency and its management in the pediatric population: a literature review and proposed etiologic classification.

Zinc is a trace element essential to the gastrointestinal, immune, integumentary, reproductive, and central nervous systems. Zinc deficiency is prevalent in many areas of the world and is a diagnostically challenging condition. Cutaneous manifestations typically occur in moderate to severe zinc deficiency and present as alopecia and dermatitis in the perioral, acral, and perineal regions. Zinc deficiency is a potentially fatal disease process. The aim of this review is to focus on the cutaneous manifestations, diagnosis, and treatment of zinc deficiency in children, and to propose an etiologic classification system.

Pediatric pityriasis lichenoides and cutaneous T-cell lymphoma.

Purpose of review The purpose of this review is to educate the reader about two cutaneous lymphoproliferative diseases in childhood: pityriasis lichenoides and cutaneous T-cell lymphoma. Pityriasis lichenoides has traditionally been divided into acute and chronic subtypes. The two forms of the disease, however, are best thought of as two ends of a benign lymphoproliferative spectrum. Cutaneous T-cell lymphoma is a rare but underrecognized cutaneous malignancy in children. Early stage disease and hypopigmented presentation are characteristic of pediatric cutaneous T-cell lymphoma. The optimal investigation and treatment plans are still controversial. Recent findings This article will summarize recent articles on pityriasis lichenoides and pediatric cutaneous T-cell lymphoma, including recent findings from an international registry of pediatric cutaneous T-cell lymphoma. Summary After reading this review, the reader should be able to recognize the clinical presentation of pityriasis lichenoides, to understand the overlap between its acute and chronic forms, and to recognize its relationship with cutaneous T-cell lymphoma. In addition, the reader will appreciate the challenges in diagnosing and treating pediatric cutaneous T-cell lymphoma.

Cutis marmorata telangiectatica congenita: a mimicker of a common disorder

A three-month-old girl presented with a reticular erythematous patch over her right thigh, which had been present since birth. The lesion did not disappear with warming. Her parents had also noticed a discrepancy in the size of her lower limbs, with relative atrophy of the right thigh. Aside from

Primitive Myxoid Mesenchymal Tumor of Infancy in a Preterm Infant

Abstract:  Primitive myxoid mesenchymal tumor of infancy is a recently recognized entity that has been added to the differential diagnosis of myxoid tumors of the soft tissue. Few cases have been reported of this entity in the literature, but none presenting in a preterm infant. We present the case and clinical course of a preterm boy with a primitive myxoid mesenchymal tumor of infancy that occurred following excision of a congential juvenile xanthogranuloma.

Harlequin colour change: unilateral erythema in a newborn

A healthy girl was born at term after an uncomplicated pregnancy and delivery. When she was five days old, unilateral erythema with contralateral pallor developed that was strikingly demarcated at midline ([Figure 1][1]). This phenomenon occurred after the infant had been placed on her right side,

Habit-tic deformity

A 7-year-old girl, who presented for an unrelated issue, had a 1-year history of an “itch” on the dorsal portion of both thumbs that led to frequent scratching and rubbing of the nail folds. The patient’s mother reported observing her daughter pulling out her hair three months earlier and that

Four novel ADAR1 gene mutations in patients with dyschromatosis symmetrica hereditaria

1 Winter H, Rogers MA, Langbein L et al. Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. Nat Genet 1997; 16: 372–374. 2 Winter H, Rogers MA, Gebhardt M et al. A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix. Hum Genet 1997; 101: 165–169. 3 van Steensel MAM, Steijlen PM, Bladergroen RS, Vermeer M, van Geel M. A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. J Med Genet 2005; 42: e19. 4 Schweizer J. More than one gene involved in monilethrix: intracellular but also extracellular players. J Invest Dermatol 2006; 126: 1216–1219. 5 Veltman JA, Jonkers Y, Nuijten I et al. Definition of a critical region on chromosome 18 for congenital aural atresia by array CGH. Am J Hum Genet 2003; 72: 1578–1584.

The toddler with 1 striped leg: a linear papular rash

A previously healthy 15-month-old boy presented with a papular, erythematous rash that had developed over the previous 5 weeks. The papules were arranged in a thin vertical line that extended along the inner side of his right leg from his foot to his upper thigh ([Figure 1][1]). The patient had no

Heel-stick calcinosis cutis

A 17-month-old infant with a history of prematurity presented to the pediatric dermatology clinic with multiple white nodules on the heels that were present since he was aged seven months. The patient had multiple heel sticks performed while he was in the neonatal intensive care nursery. On physical