Reticular infantile hemangiomas with minimal or arrested growth associated with lipoatrophy

International audienceBACKGROUND:Reticular infantile hemangioma (RIH) with minimal or arrested growth (MAG) is an underrecognized variant of infantile hemangioma (IH).OBJECTIVE:We describe a new clinical subtype of RIH-MAG associated with lipoatrophy.METHODS:The medical charts and serial clinical photographs and imaging studies of 53 children given a diagnosis between 2004 and 2013 labeled as "abortive," "minimal or arrested growth," "reticular," or "congenital" hemangiomas were reviewed in the departments of dermatology and infantile plastic surgery of 2 French university hospital centers.RESULTS:Seven children were identified with RIH-MAG associated with lipoatrophy. There were 3 main patterns: (1) a focal cutaneous depression; (2) semicircular lipoatrophy with a horizontal bandlike depression; and (3) segmental soft-tissue atrophy. One case of segmental RIH-MAG of the back of the foot was associated with genital abnormalities reminiscent of perineal hemangioma, external genitalia malformations, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus, and skin tags (PELVIS) syndrome.LIMITATIONS:The limitations were the retrospective study design, the small number of cases, and selection bias based on recall and photography.CONCLUSION:RIH-MAG with lipoatrophy is an uncommon variant of IH that may be confused with other vascular anomalies, particularly capillary malformation, focal and atrophic cutis marmorata congenita telangiectatica, and rapidly involuting congenital hemangioma with lipoatrophy as a sequela

Dermatological spectrum of hand, foot and mouth disease from classical to generalized exanthema.

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The Infantile Hemangioma Referral Score: A Validated Tool for Physicians.

OBJECTIVES Infantile hemangiomas (IHs) are common; some cases require timely referral and treatment to prevent complications. We developed and validated a reliable instrument for timely and adequate referral of patients with IH to experts by nonexpert primary physicians. METHODS In this multicenter, cross-sectional, observational study, we used a 3-stage process: (1) development of the Infantile Hemangioma Referral Score (IHReS) tool by IH experts who selected a representative set of 42 IH cases comprising images and a short clinical history, (2) definition of the gold standard for the 42 cases by a second independent committee of IH experts, and (3) IHReS validation by nonexpert primary physicians using the 42 gold standard cases. RESULTS A total of 60 primary physicians from 7 different countries evaluated the 42 gold standard cases (without reference to the IHReS tool); 45 primary physicians evaluated these cases using the IHReS questionnaire, and 44 completed retesting using the instrument. IHReS had a sensitivity of 96.9% (95% confidence interval 96.1%-97.8%) and a specificity of 55.0% (95% confidence interval 51.0%-59.0%). The positive predictive value and negative predictive value were 40.5% and 98.3%, respectively. Validation by experts and primary physicians revealed substantial agreement for interrater reliability and intrarater repeatability. CONCLUSIONS IHReS, a 2-part algorithm with a total of 12 questions, is an easy-to-use tool for primary physicians for the purpose of facilitating correct and timely referral of patients with IH. IHReS may help practitioners in their decision to refer patients to expert centers

Skin Patterns Associated with Upper Airway Infantile Haemangiomas: A Retrospective Multicentre Study

International audienceThe aim of this study was to define the skin patterns at high risk for upper airway infantile haemangioma. A retrospective multicentre French observational study was conducted between January 2006 and January 2015 and all confirmed airway haemangioma were included. Thirty-eight patients with airway haemangioma from 9 centres were included. Thirty-one patients had a cutaneous or mucosal haemangioma: 21 with a location considered at high risk for airway haemangioma (large segmental mandibular haemangioma), 4 with a very mild facial involvement (lower lip or S1 (frontotemporal segment according to Haggstrom and Frieden)) and 6 with either lesions of the neck or body, or association of both. We report here the largest cohort of airway haemangioma. A third of patients do not completely fit with the definition of the high-risk area of airway haemangioma. Segmental lower lip and neck involvement also seem to be very suggestive areas. Clinicians must be able to recognize these areas

Transient abdominal telangiectasia of the newborn

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Hereditary Mucoepithelial Dysplasia Results from Heterozygous Variants at p.Arg557 Mutational Hotspot in SREBF1, Encoding a Transcription Factor Involved in Cholesterol Homeostasis

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Is Infantile Hemangioma a Neuroendocrine Tumor?

Infantile hemangioma (IH) is the most common infantile tumor, affecting 5–10% of newborns. Propranolol, a nonselective β-adrenergic receptor (ADRB) antagonist, is currently the first-line treatment for severe IH; however, both its mechanism of action and its main cellular target remain poorly understood. Since betablockers can antagonize the effect of natural ADRB agonists, we postulated that the catecholamine produced in situ in IH may have a role in the propranolol response. By quantifying catecholamines in the IH tissues, we found a higher amount of noradrenaline (NA) in untreated proliferative IHs than in involuted IHs or propranolol-treated IHs. We further found that the first three enzymes of the catecholamine biosynthesis pathway are expressed by IH cells and that their levels are reduced in propranolol-treated tumors. To study the role of NA in the pathophysiology of IH and its response to propranolol, we performed an in vitro angiogenesis assay in which IH-derived endothelial cells, pericytes and/or telocytes were incorporated. The results showed that the total tube formation is sensitive to propranolol only when exogenous NA is added in the three-cell model. We conclude that the IH’s sensitivity to propranolol depends on crosstalk between the endothelial cells, pericytes and telocytes in the context of a high local amount of local NA