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What is Progressive hemifacial atrophy (PHA) Parry romberg syndrome

Parry Romberg syndrome is a rare disorder characterized by slowly progressive deterioration (atrophy) of the skin and soft tissues of half of the face (hemifacial atrophy), usually the left side. An autoimmune mechanism is suspected, and the syndrome may be a variant of localized scleroderma. It is more common in females than in males. Initial facial changes usually involve the tissues above the upper jaw (maxilla) or between the nose and the upper corner of the lip (nasolabial fold) and subsequently progress to the angle of the mouth, areas around the eye, the brow, the ear, and the neck. The deterioration may also affect the tongue, the soft and fleshy part of the roof of the mouth, and the gums. The eye and cheek of the affected side may become sunken and facial hair may turn white and fall out (alopecia). In addition, the skin overlying affected areas may become darkly pigmented (hyperpigmentation) with, in some cases, areas of hyperpigmentation and patches of unpigmented skin (vitiligo). Parry-Romberg syndrome is also accompanied by neurological abnormalities including seizures and episodes of severe facial pain (trigeminal neuralgia). The onset of the disease usually begins between the ages of 5 and 15 years. The progression of the atrophy often lasts from 2 to 10 years, and then the process seems to enter a stable phase. Muscles in the face may atrophy and there may be bone loss in the facial bones. Problems with the retina and optic nerve may occur when the disease surrounds the eye. There is no cure and there are no treatments that can stop the progression of Parry-Romberg syndrome. In mild cases, the disorder usually causes no disability other than cosmetic effects.

Progressive hemifacial atrophy (PHA), also known as Parry-Romberg syndrome, is characterized by slowly progressive deterioration of the skin and soft tissues on one side of the face.[1] It sometimes occurs on both sides of the face and occasionally involves the arm, trunk, and/or leg.[2][3][4] The condition may worsen for 2 to 20 years and then stabilize. It usually begins around age 10 but can begin as early as infancy or as late as mid-adulthood. The severity varies greatly. While the cause is not well understood, it may differ among affected people.[2][5][6][7]

PHA is often associated with a type of linear scleroderma called “en coupe de sabre” (ECDS), and many researchers believe that PHA is also a form of linear scleroderma.[5][7][8] Therefore, treatment for PHA often includes medications used to treat other forms of linear scleroderma. After progressive hemifacial atrophy has stopped progressing, reconstructive surgery may be used to restore the natural shape of the face and eye.[5]

This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
https://rarediseases.info.nih.gov/diseases/7338/progressive-hemifacial-atrophy

 

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