Localized infantile hemangiomas of the face and scalp: Predilection for the midline and periorbital and perioral skin.

BACKGROUND/OBJECTIVES: Infantile hemangiomas are common vascular tumors. Identifying sites of predilection may provide insight into pathogenesis. Previous studies have suggested a predilection for the boundary of facial metameres. The objective was to observe patterns of localized hemangiomas on the face and scalp, determine sites of predilection, and place these patterns in a developmental context. METHODS: A retrospective review of photographic archives at 10 Hemangioma Investigator Group pediatric dermatology centers identified localized infantile hemangiomas of the face and scalp. Heat map software was used to identify areas of predilection. Dot maps were used to assess frequency, and densities of infantile hemangiomas were compared between facial units using t-testing. The scalp was divided into quintiles to assess relative frequencies. RESULTS: Four thousand one hundred fifty-three focal face and scalp infantile hemangiomas were mapped, of which 2962 (71%) were mapped to a frontal facial template. On the face, 73.8% (2186/2962) of hemangiomas occurred along the midline axis or perpendicularly across the ocular axis in a cross-shaped area of predilection intersecting at the glabella. Scalp hemangiomas show a predilection for the midline, with 149/295 (50.5%) noted on the top of the scalp at the midline (P < 0.001). Localized hemangiomas do not demonstrate a preferential laterality. CONCLUSION: The distribution of localized infantile hemangiomas of the face and scalp is not random. There is preferential involvement of the midline face and scalp and the ocular axis. The regions corresponding to the boundaries between the embryonic facial segments, including the maxillary and mandibular metameres, are not accentuated in the distribution of infantile hemangiomas.

Oral glycopyrrolate as second-line treatment for primary pediatric hyperhidrosis.

BACKGROUND: Primary focal hyperhidrosis not uncommonly begins during the first two decades of life, and can have a profound effect on quality of life. Few treatment options have been studied in children. OBJECTIVE: We sought to evaluate the response to oral glycopyrrolate in pediatric patients. METHODS: Records of pediatric patients with hyperhidrosis seen at a pediatric hospital in a 10-year period were reviewed retrospectively and, if possible, parents and patients were also interviewed. The efficacy and adverse effects of oral glycopyrrolate were assessed. RESULTS: In all, 31 children took at least one dose of oral glycopyrrolate. All had daily hyperhidrosis that affected their quality of life and were resistant or intolerant of aluminum salts. The mean age of hyperhidrosis onset was 10.3 years, and mean age of initiation of glycopyrrolate was 14.8 years. At a mean dosage of 2 mg daily, 90% of patients experienced improvement, which was major in 71% of responders. Improvement occurred within hours of administration and disappeared within a day of discontinuation. Duration of treatment averaged 2.1 years (range to 10 years). Side effects were noted by 29% of children, most commonly dry mouth (26%) and eyes (10%), and were dose-related. One patient developed blurred vision, which resolved with dosing below 5 mg/d; one patient experienced palpitations and discontinued the medication. LIMITATIONS: This was a retrospective analysis of a limited number of pediatric patients. CONCLUSION: Oral glycopyrrolate is a cost-effective, painless second-line therapy for children and adolescents with primary focal hyperhidrosis that impacts their quality of life.

Mapping of Segmental and Partial Segmental Infantile Hemangiomas of the Face and Scalp.

IMPORTANCE: Recognizing segmental infantile hemangioma (IH) patterns is important for risk stratification and provides clues to pathogenesis. Previously, segmental hemangiomas were mapped to 4 facial regions, 3 corresponding to known facial metameres. OBJECTIVES: To refine existing maps of facial segmental IHs, examine so-called indeterminate hemangiomas as they relate to known segmental patterns, and define a novel pattern of segmental scalp hemangiomas. DESIGN, SETTING, AND PARTICIPANTS: This retrospective cohort study was conducted at 4 pediatric dermatology centers (University of California, San Francisco; Indiana University; Medical College of Wisconsin; and Northwestern University/Ann & Robert H. Lurie Children's Hospital of Chicago) using photographic archives of patients younger than 12 years with segmental and indeterminate hemangiomas on the face and scalp. Clinical images were used to map hemangioma distribution onto standardized facial templates. Heat map densiometry identified recurrent patterns that were compared with previously published patterns of facial segmental hemangiomas. Patterns of indeterminate hemangiomas were compared with those of segmental hemangiomas. Data collection took place in 2017, and analysis took place from 2017 to 2019. MAIN OUTCOMES AND MEASURES: Distribution and patterning of segmental and indeterminate IHs of the face and scalp. RESULTS: A total of 549 IHs were mapped. The borders of the frontotemporal (S1) and frontonasal (S4) segments agreed with previous segmental maps; however, the maxillary (S2) and mandibular (S3) segment borders differed with respect to the preauricular skin. In contrast with previous reports, preauricular skin segregated with the mandibular (S3) rather than the maxillary (S2) segment. Indeterminate hemangiomas occurred within and respected the same borders as segmental hemangiomas. Hemangiomas on the lateral scalp commonly occurred in a C shape extending from the posterior auricular region. CONCLUSIONS AND RELEVANCE: This cohort study provides an updated map of facial segmental IHs with redefined maxillary (S2) and mandibular (S3) segment borders. It provides evidence that indeterminate hemangiomas are partial segmental hemangiomas respecting anatomic boundaries of their larger segmental counterparts. A newly recognized C-shaped pattern of segmental scalp hemangioma is reported.

Incontinentia pigmenti in male patients.

BACKGROUND: Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis that is typified by distinctive cutaneous findings and often by abnormalities of teeth, hair, nails, eyes, musculoskeletal system, and central nervous system. The gene that is mutated in patients with IP has been mapped to Xq28 and encodes the NF-kappaB essential modulator, NEMO. Female patients with IP show functional mosaicism and cutaneous manifestations follow Blaschko's lines of ectodermal embryologic development. The condition is generally considered to be lethal in utero in male fetuses, suggesting that having some normal gene expression is critical for survival. OBSERVATIONS: We observed 9 boys with IP. All had normal karotypes and no apparent family history of IP. In 8 of these 9 patients, lesions were localized to one extremity at presentation. The diagnosis was confirmed by histopathologic examination that showed eosinophils within intraepidermal, multiloculated vesicles. One of the boys later developed dental and neurologic abnormalities. LIMITATIONS: The case series was small and the workup for these patients from different sites was not uniform. CONCLUSIONS: Male individuals may show cutaneous and noncutaneous features of IP in a limited distribution that allows survival. Postzygotic mutation/somatic mosaicism is the likely mechanism. Given the potential sequelae associated with this condition, continuing follow-up of these patients is recommended.

Skin conditions in figure skaters, ice-hockey players and speed skaters: part II - cold-induced, infectious and inflammatory dermatoses.

Participation in ice-skating sports, particularly figure skating, ice hockey and speed skating, has increased in recent years. Competitive athletes in these sports experience a range of dermatological injuries related to mechanical factors: exposure to cold temperatures, infectious agents and inflammation. Part I of this two part review discussed the mechanical dermatoses affecting ice-skating athletes that result from friction, pressure, and chronic irritation related to athletic equipment and contact with surfaces. Here, in Part II, we review the cold-induced, infectious and inflammatory skin conditions observed in ice-skating athletes. Cold-induced dermatoses experienced by ice-skating athletes result from specific physiological effects of cold exposure on the skin. These conditions include physiological livedo reticularis, chilblains (pernio), Raynaud phenomenon, cold panniculitis, frostnip and frostbite. Frostbite, that is the literal freezing of tissue, occurs with specific symptoms that progress in a stepwise fashion, starting with frostnip. Treatment involves gradual forms of rewarming and the use of friction massages and pain medications as needed. Calcium channel blockers, including nifedipine, are the mainstay of pharmacological therapy for the major nonfreezing cold-induced dermatoses including chilblains and Raynaud phenomenon. Raynaud phenomenon, a vasculopathy involving recurrent vasospasm of the fingers and toes in response to cold, is especially common in figure skaters. Protective clothing and insulation, avoidance of smoking and vasoconstrictive medications, maintaining a dry environment around the skin, cold avoidance when possible as well as certain physical manoeuvres that promote vasodilation are useful preventative measures. Infectious conditions most often seen in ice-skating athletes include tinea pedis, onychomycosis, pitted keratolysis, warts and folliculitis. Awareness, prompt treatment and the use of preventative measures are particularly important in managing such dermatoses that are easily spread from person to person in training facilities. The use of well ventilated footgear and synthetic substances to keep feet dry, as well as wearing sandals in shared facilities and maintaining good personal hygiene are very helpful in preventing transmission. Inflammatory conditions that may be seen in ice-skating athletes include allergic contact dermatitis, palmoplantar eccrine hidradenitis, exercise-induced purpuric eruptions and urticaria. Several materials commonly used in ice hockey and figure skating cause contact dermatitis. Identification of the allergen is essential and patch testing may be required. Exercise-induced purpuric eruptions often occur after exercise, are rarely indicative of a chronic venous disorder or other haematological abnormality and the lesions typically resolve spontaneously. The subtypes of urticaria most commonly seen in athletes are acute forms induced by physical stimuli, such as exercise, temperature, sunlight, water or particular levels of external pressure. Cholinergic urticaria is the most common type of physical urticaria seen in athletes aged 30 years and under. Occasionally, skaters may develop eating disorders and other related behaviours some of which have skin manifestations that are discussed herein. We hope that this comprehensive review will aid sports medicine practitioners, dermatologists and other physicians in the diagnosis and treatment of these dermatoses.

X-linked ectodermal dysplasia with immunodeficiency caused by NEMO mutation: early recognition and diagnosis.

BACKGROUND: X-linked ectodermal dysplasia with immunodeficiency (XL-EDA-ID) is described in patients with hypomorphic mutations in IKBKG (the inhibitory kappaB kinase gamma gene), which encodes nuclear factor kappaB essential modulator (NEMO). Features include hypohidrosis, dental anomalies, alopecia, and immunodeficiency. Boys with NEMO mutations often present with serious infections, but the NEMO mutations are rarely diagnosed early in infancy. Cutaneous features in these patients are poorly elucidated. OBSERVATIONS: A 12-week-old male infant presented with a recalcitrant skin eruption, intertrigo, atopiclike dermatitis, and erythroderma. Alopecia, frontal bossing, and periorbital wrinkling were present, and family history revealed incontinentia pigmenti in his mother. Laboratory evaluation revealed leukocytosis with eosinophilia, low IgG and IgM levels, and absent IgA. Flow cytometry revealed lymphocytosis with elevated CD3(+) and CD4(+) counts and low levels of natural killer cells. Amplification and sequencing of IKBKG revealed insertion of cytosine at nucleotide 1167 (1167-1168insC) in exon 10, with frameshift mutation in the zinc-finger domain. Peripheral blood stem cell transplantation led to initial engraftment and improvement in his skin findings, but his engrafted cell counts diminished, and a second stem cell transplantation was planned. CONCLUSIONS: Mutations in NEMO should be considered in male infants with recalcitrant seborrheic or atopic dermatitislike eruptions and intertrigo, especially when features of ectodermal dysplasia are present. Early recognition and diagnosis are desirable, prior to the onset of manifestations of immunodeficiency.