Atypical congenital cervical skin infiltration

Paediatric dermatology

Dr. Emmanuelle Bourrat

Saint-Louis Hospital

The clinical case
Now it's your turn!
Co-prescription and advice

Clinical case presentation

This little boy was born with a slightly infiltrated erythematous plaque on the nape of his neck, extending slightly over the upper back, the occipital scalp and the right laterocervical region, which was considered to be a port wine stain. He consulted the emergency department at the age of 1 month, as the lesion was slightly progressive in terms of surface area and thickness, and worried his parents. The delivery was eutocic, the birth weight was within normal limits, and the standard biological workup, chest X-ray and abdominal ultrasound were normal.

A skin biopsy was proposed. The child was seen again quickly, as the lesion was progressing on the surface and becoming sensitive to palpation. PT and platelets remained normal, fibrinogen decreased to 1.7 g/L and D-dimer increased to 4000 and then 13600 ng/mL.

Your turn

What is your diagnosis?

Select 1 answer(s) from the following choices:

Cytosteatonecrosis

Tufted angioma

Deep infantile hemangioma

Myofibromatosis

Wrong answer!

Good answer!

Selected diagnosis

Pathological examination of this atypical vascular lesion (a port wine stain is never infiltrated or progressive) reveals vascular proliferation composed of dilated capillaries with an arciform appearance, associated with areas where these capillaries are organized into small lobules.

On immunohistochemistry, actin and CD31 highlight the abundance of the proliferation. D2-40 is positive and heterogeneous within the lobules. This morphological and immunohistochemical appearance is consistent with a tufted angioma, and the clinical and biological evolution is indicative of a Kasabach-Merritt phenomenon.

The rapid increase in angioma volume is accompanied by thrombocytopenia due to intratumoral platelet trapping, low fibrinogen levels and high D-dimer levels. As this development occurred despite the introduction of acetylsalicylic acid 100 mg/day for preventive purposes, sirolimus at a dose of 0.05 mg/kg/day was introduced, enabling rapid reduction of infiltration and normalization of biological parameters.

Explanation of wrong answers

Cytosteonecrosis is a very firm, single or multiple infiltrated subcutaneous lesion of variable size that occurs in a newborn in the days following a difficult delivery (large baby) and/or one complicated by hypoxia. The lesion corresponds to necrosis of fetal brown fat and spontaneously regresses within a few days to weeks.
Deep infantile hemangiomas are not congenital, and although they may progress in the first six months of life, they are never complicated by Kasabach-Merritt syndrome, which occurs specifically in kaposiform hemangioendotheliomas or tufted angiomas. These are two rare vascular tumors in children that belong to the same clinicopathological spectrum.
Infantile myofibromatosis is a fibrovascular proliferation, most often subcutaneous, usually congenital and progressive, sometimes inflammatory, which is excluded by histological appearance.

Treatment

Tufted angiomas need to be monitored regularly, both clinically and biologically, and parents need to be taught to seek medical advice quickly in the event of an increase in size or the appearance of pain, signaling the onset of Kasabach-Merritt phenomenon, which is a therapeutic emergency. Conventional treatments (ticlopidine plus aspirin, corticosteroids, interferon alfa, vincristine, pentoxifylline, etc.) are often insufficient, and sirolimus appears to be a promising alternative.

Message from the expert

Any vascular-looking lesion in an infant that does not meet the clinical criteria for infantile hemangioma or port wine stain requires specialized management to rule out a rarer tumor or vascular malformation.

References:

^{Wang H et al. Sirolimus as initial therapy for kaposiform hemangioendothelioma and tufted angioma.}^{Pediatr Dermatol. 2018 Sep;35(5):635-638.}