Ventral Midline Blanching in the Setting of Segmental Infantile Hemangiomas: Clinical Observations and Pathogenetic Implications

Feigenbaum, Frank; Sybert, Virginia P.; Vanderhooft, Sheryll L.; Siegel, Dawn H.; Drolet, Beth A.; Frieden, Ilona J.; Mathes, Erin F.

doi:10.1111/pde.12462

Cited by 3 publications

(2 citation statements)

References 17 publications

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“…Ventral midline skin blanching also has been described. 3 Although the infantile hemangiomas in PHACE syndrome are typically large and segmental (lesions that cover a larger anatomic territory of the face or body), they can be more subtle, as demonstrated in our patient. However, their multifocal nature, in conjunction with the midline developmental defects, heightened our concern for this syndrome, prompting further evaluations that confirmed the diagnosis.…”

mentioning

confidence: 51%

Midline Skin Anomalies: A Small Clue to a Larger Diagnosis

El-Feghaly

Montenegro

Mancini

2021

The Journal of Pediatrics

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A 3-month-old girl, born at term, presented for evaluation of multiple vascular skin lesions on the face. The lower-lip lesion had been noted at 2 weeks of age, with the others developing over weeks on the right temple, left chin, left ear, and submental region. The lesions appeared to be asymptomatic without any bleeding or breakdown, and her parents denied breathing or feeding difficulties. She was otherwise healthy and was reaching normal developmental milestones.Physical examination revealed a vascular red thin plaque on the right lower lip (Figure , A), with speckled vascular papules on the left temporal scalp (Figure , B), left neck, and left chin and submental region (Figure , C), all felt to be consistent with infantile hemangiomas. There was no hoarseness or stridor. Full skin examination was performed and revealed an atrophic sternal pit and a smaller midline superior abdominal atrophic defect (Figure , D). Given her constellation of findings, magnetic resonance (MR)

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mentioning

confidence: 51%

Midline Skin Anomalies: A Small Clue to a Larger Diagnosis

El-Feghaly

Montenegro

Mancini

2021

The Journal of Pediatrics

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“…Small IH frequently overlie the sternum. Midline blanching may precede the appearance of the red, vascular papules in IH (Feigenbaum et al, ). Sternal cleft may require surgical closure to protect underlying mediastinal structures, prevent paradoxical chest wall movement, and improve cosmetic appearance (Ramdial, Pillay, & Madaree, ).…”

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confidence: 99%

PHACE syndrome: Infantile hemangiomas associated with multiple congenital anomalies: Clues to the cause

Siegel

2018

Am J Med Genet

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Infantile hemangiomas (IH) are the most common vascular tumor of infancy with an estimated 80,000 annual diagnoses in the United States. The genetic mechanisms underlying IH and the related multi‐organ birth defect syndromes, PHACE (an acronym for Posterior fossa brain malformations, segmental facial Hemangiomas, Arterial anomalies, Cardiac defects, Eye anomalies, and sternal clefting or supraumbilical raphe) and LUMBAR (an acronym for Lower body hemangiomas, Urogenital anomalies, Myelopathy, Bone deformities, Anorectal malformations/Arterial anomalies, Renal anomalies) remain unsolved. With advances in next generation sequencing (NGS), genomic alterations have been identified in a wide range of vascular anomaly syndromes. We hypothesize that PHACE is a genetic disorder, caused by somatic mutations, likely in cancer genetic pathways. Identification of the genetic etiology will lead to improved diagnosis in PHACE syndrome and development of targeted therapies for IH and related congenital anomalies.

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Facing PHACE Twenty-five Years Later

Braun

Mathes

Siegel

et al. 2021

Journal of Vascular Anomalies

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Objectives: To review the key features of PHACE syndrome over the past 25 years, highlighting evaluation, management, current gaps in knowledge, and potential next steps in research and patient-centered care. Methods: Literature review and synthesis of expert opinion. Results: PHACE is a congenital neurocutaneous syndrome in which affected patients have posterior fossa abnormalities, hemangiomas, arterial anomalies, cardiac anomalies, and/or eye anomalies. Since its discovery 25 years ago, the scientific and medical communities have made strides in understanding and developing best practice approaches to diagnosis, outcomes, and surveillance. More research will be needed to fully elucidate the pathogenesis of this condition as well as long-term outcomes. We offer suggestions for healthcare maintenance to coordinate and streamline multidisciplinary patient care. Conclusions: Our understanding of PHACE syndrome has grown immensely since its discovery. As we continue to learn about long-term outcomes and the importance of surveillance into adulthood, a multidisciplinary and patient-centered approach is critical to optimize care for individuals with this disease.

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Ventral Midline Blanching in the Setting of Segmental Infantile Hemangiomas: Clinical Observations and Pathogenetic Implications

Cited by 3 publications

References 17 publications

Midline Skin Anomalies: A Small Clue to a Larger Diagnosis

Midline Skin Anomalies: A Small Clue to a Larger Diagnosis

PHACE syndrome: Infantile hemangiomas associated with multiple congenital anomalies: Clues to the cause

Facing PHACE Twenty-five Years Later

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