Just a little birthmark?

Case:

You are asked to evaluate a healthy 1.5-day-old girl who has a congenital red patch with coarse telangiectasias and a surrounding ring of pallor on the right shoulder. It is more prominent today than it was on admission to the nursery. The neonatologist wants to know if this is a portwine birthmark.

What's your diagnosis?

Diagnosis: Precursor lesion for infantilehemangioma

Discussion:

The blanching confluent red patches inferiorly surrounded by a ring of diffuse pallor about 5 cm in diameter along with course and fine telangiectasias superiorly were unusual for portwine birthmarks and other capillary malformations.

Since we were worried that this might represent a precursor lesion for an Infantile hemangioma (IH), we asked the family to send images at 5 to 7 day intervals. However, they did not send images and returned 1 month later when the lesion showed changes typical of a focal, superficial IH.

According to the International Society for Study of Vascular Anomalies (ISSVA) Classification, vascular anomalies are broadly classified as vascular tumours and vascular malformations.¹ It is important for the clinician to diagnose and differentiate tumours from malformations as their course and treatment, if necessary, differ.

With an incidence rate of 12%, IHs are the most common vascular tumours of infancy.² IHs have a natural course of 2 stages: a proliferative phase up to 12 months of age with the most dramatic growth often within the first 6 to 10 weeks followed by an involution phase which begins by the age of 6 to 12 months and regression by the age of 4 years or more. IHs usually demonstrate a round or oval focal pattern or segmental pattern following an embryologic segment. They could either be superficial (involving the superficial dermis, presenting as a ‘strawberry mark’), deep (with only involvement of the deep dermis and/or subcutaneous tissue) or the lesions may be mixed with superficial and deep components.¹

Nearly a quarter of IHs may develop complications, some of which may be life threatening. These include ulceration, bleeding, scarring, high output cardiac failure, airway or visual obstruction, hypothyroidism, and complex syndromes with multisystem involvement particularly in segmental lesions such as PHACES Syndrome (posterior fossa abnormalities, hemangiomas, arterial intracranial anomalies, cardiac anomalies/coarctation, eye anomalies, sternal defects) and LUMBAR Syndrome (lower body IH, urogenital defects, ulceration, myelopathy, bony anomalies, anorectal/arterial anomalies, and rectal anomalies).²

Precursor Lesions:

To complicate things, 30% to 50 % of IHs may present with a congenital precursor lesion.⁴ These lesions could include an area of pallor (signifying vasoconstriction) followed by a single or multiple fine thread like telangiectasias.^3,4 Others may initially appear as uniform erythema, reticulate erythema, or a bruise-like macule that transforms into papules, plaques and/or nodular lesions typical of IHs.⁵

Differential diagnoses

The most common differential diagnosis during premonitory findings includes a port wine birthmark, nevus simplex or other capillary malformations. However, port wine birthmarks and nevus simplex are capillary malformations which do not proliferate and often do not have a patch of pallor. These precursor lesions may rarely be misdiagnosed as nevus anemicus. However, the course telangiectasias that were seen in this infant are not seen in this condition. The reticulate erythema may be seen with cutis marmaratatelangectaticacongenita (CMTC). However, this is an uncommon venous malformation in which the reticulated vessels are often associated with atrophy and underlying soft tissue and bony defects.

Treatment

Diagnosis and risk stratification is an important step in management ofIHs. Imaging may be considered for associated structural abnormalities.

Pharmacotherapies include oral propranolol for IH requiring systemic treatment, oral glucocorticoids for patients where oral propranolol is contraindicated or when there is inadequate response, or topical timolol for superficial hemangiomas. Surgery and laser treatments are options only for selected cases of IH.⁶

Our Patient:

In our patient, since the lesion was a superficial focal IH, on prescription, the parents of our patient agreed to treat the hemangioma withtopical TIMOLOL (Timoptic 0.5%) gel forming solution, and there was no further growth, and subtle greying of the surface was noted within 4 weeks.

References:

1. Darrow DH, Greene AK, Mancini AJ, Nopper AJ; SECTION ON DERMATOLOGY, SECTION ON OTOLARYNGOLOGY–HEAD AND NECK SURGERY, and SECTION ON PLASTIC SURGERY. Diagnosis and Management of Infantile Hemangioma. Pediatrics. 2015;136(4):e1060-e1104. doi:10.1542/peds.2015-2485 

2. Leung AKC, Lam JM, Leong KF, Hon KL. Infantile Hemangioma: An Updated Review. CurrPediatr Rev. 2021;17(1):55-69. doi:10.2174/1573396316666200508100038

3. Maguiness S M Frieden I J. Vascular Birthmarks. In: L.A. Schachner & R. C. Hansen, eds. Pediatric Dermatology. 4th ed. Philadelphia, PA: Mosby; 2011

4. Sepulveda A, Buchanan EP. Vascular tumors. Semin Plast Surg. 2014;28(2):49-57. doi:10.1055/s-0034-1376260

5. Hidano A, Nakajima S. Earliest features of the strawberry mark in the newborn. Br J Dermatol. 1972;87(2):138-144. doi:10.1111/j.1365-2133.1972.tb16188.x

6. Krowchuk DP, Frieden IJ, Mancini AJ, et al. Clinical Practice Guideline for the Management of Infantile Hemangiomas. Pediatrics. 2019;143(1):e20183475