Strange purple lump on infant’s head is rare case of protruding brain tissue, case report says

Close-up of a small purple lump on an infant boy's head; the bump is surrounded by long, dark hairs, while the rest of the child's head has lighter, shorter hairs — The lump, pictured above, was purple within the center and surrounded by a circle of lengthy, darkish hairs. (Picture credit score: Picture courtesy of JAMA Community ® / © 2023 American Medical Affiliation)

A boy who was born with a purple lump on his head had a uncommon pores and skin defect and a little bit of mind tissue spilling out of his cranium, a brand new case report says.

The lump, which was on the correct high of the boy’s head, measured round 0.5 sq. inches (3.2 sq. centimeters) in space and had a hoop of lengthy, darkish hairs surrounding it. This ring of hair, often known as the “hair collar signal,” can level to a sort of neural tube defect, which occurs when the neural tube — the construction from which the mind and spinal twine originate — would not shut correctly as a fetus develops within the womb. Such defects may cause protrusions of mind tissue to type lumps on the scalp.

Medical doctors concerned within the case, printed Sept. 20 within the journal JAMA Dermatology, identified the kid with a uncommon situation known as aplasia cutis congenita (ACC). Believed to have an effect on simply 1 to three in 10,000 kids, ACC causes infants to be born with out pores and skin on a part of the physique, most usually the scalp; buildings below the pores and skin, similar to connective tissue or bone, can typically be lacking too.

“Most circumstances usually happen on the scalp, seem like an ulcer or wound and could also be surrounded by additional lengthy hair,” Dr. Jenna Borok, lead creator of the case report and pediatric dermatologist on the Ann & Robert H. Lurie Youngsters’s Hospital of Chicago, instructed Reside Science in an e mail.

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Medical doctors do not know what causes ACC, however a number of elements could contribute to its improvement, together with an infection or bodily trauma within the womb, publicity to medication that may trigger start defects, and neural tube defects. Mutations in a gene known as BMS1, which is concerned in constructing proteins in cells, have additionally been linked to the situation.

The boy within the report had a selected kind of ACC known as bullous ACC, which usually begins out as a cyst-like lump that may be stuffed with fluid after which shrinks right into a smaller plaque that’s coated by a skinny membrane.

At 2-weeks-old, the boy had been identified with bullous ACC with hair collar signal, in reference to the ring of hair across the lump; nonetheless, preliminary scans of his head did not recommend any mind tissue was within the lump.

However when he reached 6 years of age, medical doctors surgically eliminated the lump and located that the extracted tissue confirmed indicators of encephalocele, a neural tube defect the place mind tissue tasks by means of a gap within the cranium and varieties a sac-like construction on the top. So his analysis was tweaked to bullous ACC with encephalocele.

The boy’s case and six beforehand reported circumstances seemingly help the concept bullous ACC is an uncommon manifestation of a neural tube defect, the case report authors wrote. The authors did not element if the boy had any mental or bodily impairments because of the situation.

By way of therapy, some ACC circumstances contain surgically altering the looks of the ensuing scar, and typically pores and skin or bone grafting is required to restore bigger defects, the authors wrote within the report.

This text is for informational functions solely and isn’t meant to supply medical recommendation.

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