Martin Theiler

Topical Timolol for Infantile Hemangiomas: Evidence for Efficacy and Degree of Systemic Absorption

Topical use of timolol for infantile hemangiomas has recently emerged with promising results. It is unknown whether topical β‐blockers act locally or if their effect is partly due to systemic absorption. This study investigates whether topically applied timolol is absorbed and reports on the efficacy of this treatment.

High Relapse Rates Despite Early Intervention with Intravenous Methylprednisolone Pulse Therapy for Severe Childhood Alopecia Areata

Previous data suggest that early application of intravenous methylprednisolone pulse therapy (IV‐MPPT) may improve the disease course of alopecia areata. The objective of this study was to investigate the outcome of IV‐MPPT in severe childhood alopecia areata, predominantly with short disease duration.

Disseminated molluscum contagiosum in a HIV-positive child. Improvement after therapy with 5% imiquimod

BACKGROUND Molluscum contagiosum (MC) is a frequent and usually benign cutaneous infection with molluscum contagiosum virus (MCV), affecting mainly children and young sexually active adults. With the emergence of HIV/AIDS, a new patient group at risk has been identified with often extensive skin involvement and recalcitrant disease. MAIN OBSERVATIONS We report a case of a girl with connatal HIV-infection, suffering from extensive, disseminated MC. Due to multi-resistance, an effective antiretroviral therapy could not be established for years, rendering an effective treatment of MC by established treatment options virtually impossible. An off-label use of imiquimod showed a marked improvement of lesion counts in this patient, whereas a complete clearance could only be achieved once effective antiretroviral therapy was introduced. CONCLUSIONS We believe that imiquimod may represent a valuable treatment option for molluscum contagiosum especially in the context of marked immunosuppression, where sensitive areas like the face and neck are often involved and scarring must be avoided.

Vascular anomalies – a practical approach

Vascular anomalies are common clinical problems (around 4.5% of all patients) in pediatric dermatology. A correct diagnosis is possible on clinical grounds in around 90% of cases; the remaining patients may require radiologic evaluations (duplex ultrasonography, MRI scan) and, rarely, histology.

Breast Hypoplasia as a Complication of an Untreated Infantile Hemangioma

We report the case of a mixed infantile hemangioma (IH) involving the right breast that resulted in pronounced hypoplasia of the affected breast, which became apparent after breast development at puberty. No treatment had been performed in infancy or childhood. This case demonstrates that the presence of an IH may affect development of the mammary gland bud and that systemic therapy should be considered in an attempt to minimize this adverse sequela.

Infantile hemangiomas with conjunctival involvement: An underreported occurrence

Infantile hemangiomas (IHs) involving the conjunctiva are only anecdotally reported in the literature and little is known about their clinical course. In a retrospective case series we aimed to better delineate the clinical presentation, complications, and response to treatment of this uncommon subtype of IH. A classification of conjunctival IH is proposed.

Vaskuläre Anomalien – Anleitung für die tägliche Praxis

Vaskuläre Anomalien sind mit einem Anteil von 4,5 % ein häufiger Konsultationsgrund in einer dermatopädiatrischen Sprechstunde. Eine korrekte diagnostische Zuordnung ist anhand des klinischen Bildes in etwa 90 % der Fälle ohne weitere Abklärungen möglich, bei den verbleibenden Patienten helfen bildgebende Verfahren (Duplex-Sonografie, MRI) und seltener auch die Histologie weiter. Unterteilt werden die vaskulären Anomalien in Tumoren und Malformationen. Diese strikte Differenzierung widerspiegelt das unterschiedliche biologische Verhalten dieser zwei Gruppen. Unter den vaskulären Tumoren tritt das infantile Hämangiom weitaus am häufigsten auf, welches durch einen charakteristischen Zyklus aus Proliferation, Plateauphase und Regression gekennzeichnet ist. Einen Meilenstein in der Therapie stellt die 2008 entdeckte Wirksamkeit von Betablockern bei diesem Krankheitsbild dar. Die vaskulären Malformationen können alle Arten von Gefäßen betreffen (Kapillaren, Arterien, Venen oder Lymphgefäße). Diese sind in der Regel bei Geburt vorhanden und wachsen proportional mit dem Kind mit. Allerdings zeigen einige Formen gerade in der Pubertät eine deutliche Progredienz. In den letzten Jahren haben die interventionellen Verfahren entscheidende Fortschritte erzielt. Daneben stellt nach wie vor die Chirurgie ein wichtiges Standbein der Therapie dar. Grundkenntnisse dieser Erkrankungen sind für den Dermatologen entscheidend, um die Patienten adäquat aufzuklären, zu behandeln und allfällige Komplikationen frühzeitig zu erkennen respektive zu antizipieren.

Epidermolysis bullosa simplex with KLHL24 mutations is associated with dilated cardiomyopathy

Inherited epidermolysis bullosa (EB) comprises rare heterogeneous disorders characterized by cutaneous and mucosal fragility. Most of the 20 proteins affected have structural functions. Recently, a previously undescribed type of EB simplex (EBS), caused by gain-of-function mutations in KLHL24, encoding KLHL24 has been identified (He et al., 2016, Lin et al., 2016). This protein seems to be involved in protein ubiquitination. Patients carrying monoallelic mutations in the translation initiation codon of KLHL24 have a characteristic clinical phenotype, showing skin defects and blistering at birth and unusual stellate scarring, skin fragility, and whorled or macular hyperpigmentation or hypopigmentation in childhood (Figure 1a–e). Although skin fragility improves by adulthood, nail dystrophy, anetoderma, and hair loss may occur (Figure 1f–h).

Topical Tacalcitol for Family Occurrence of Follicular Keratosis of the Chin

Report of Cases | A 7-year-old boy and his 5-year-old brother were seen for papular lesions on the chin that had occurred at age 4 years in both cases. On examination, both children had multiple whitish, follicular, hyperkeratotic, pinpoint papules on their chins, more pronounced in the older boy (Figure 1). The lesions were asymptomatic, and the boys were otherwise in good general health. A habit of rubbing or picking or any other physical trauma was denied. Because of the distinct clinical presentation, a diagnosis of FKC was made. Dermoscopy findings were also consistent with this disorder, showing welldemarcated yellow spindle bodies (Figure 2).1 Both patients were treated with topical tacalcitol (4.17 μg tacalcitolum monohydricum/g, Curatoderm ointment; Almirall) once daily, which was followed by complete clearance of the lesions in both boys within only 4 weeks. The treatment was continued for 3 months and thereafter stopped. There was no recurrence during further 12-month follow-up.

Eosinophilic Pustular Folliculitis in Children after Stem Cell Transplantation: An Eruption Distinct from Graft-Versus-Host Disease

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.