A 35-year-old Dinka woman presented with left hemifacial atrophy associated with left-sided body hemihypoesthesia and glaucoma with overlapping linear scleroderma “en coup de sabre” for 5 years...
Posted June 6,2019 in General Medicine.
ParryRomberg syndrome (PRS), also known as progressive hemifacial atrophy, was originally described by Caleb Hillier Parry in 1815, then it was described with further details by Moritz Heinrich Romberg in 1846 and in 1871 Eulenberg established the term progressive facial hemiatrophy [1,2,3]. It is a developmental craniofacial disorder of unknown etiology characterized by a slowly progressive unilateral facial atrophy and is associated with different systemic manifestations. In particular, it is associated with maxillofacial manifestations (wasting of masticatory muscles, delayed ipsilateral tooth eruption, unilateral tongue atrophy, jaw hypoplasia), and neurological (trigeminal neuralgia, migraine, seizures) and ophthalmologic abnormalities (enophthalmos, glaucoma, endothelial precipitates, Horners syndrome, ophthalmoplegia) [4,5,6,7,8,9]. Moreover, it is frequently associated with linear scleroderma and referred to asen coup de sabre[10,11].
Onset of the disease is in childhood, typically during the first two decades of life, although later onset has previously been described. Usually, the atrophy progresses slowly for several years and afterward it becomes stable with females being affected more than males [11,12].
Almost two centuries after this disease was defined, the etiology has still not been determined. Autoimmune disease and other causes like metabolic disorders and trauma have been postulated; sometimes, familial cases with autosomal dominant inheritance have been seen.
What is unusual about the present case is the rather late onset at age of 30, the static type of progression, and the hemihypoesthesia.
A 35-year-old Dinka woman from South Sudan presented with left-sided facial asymmetry associated with numbness on the left side of her body and deteriorating vision in her left eye. Her symptoms started 5years earlier with slowly progressive left-sided facial atrophy associated with reduced vision in her left eye and early morning blurred vision. Two years later she started feeling numbness on the left side of her body (upper limb and lower limb spontaneously). Numbness and atrophy became static in the last year with further deterioration in vision.
She never had any seizures or history of a psychiatric illness. There was no family history of a similar condition; she was not on any medication or known to have any chronic illness.
A diagnosis of PRS with overlapped linear scleroderma was postulated and further radiologic and laboratory assessments were made.
Lab Test Results
An electroencephalogram (EEG) revealed normal study: normal 9Hz, -rhythm in awake EEG with no epileptiform activity seen.
Two skin biopsies were requested that reported: skin with hyperkeratosis, follicular plugging, thin stratum Malpighii, and focal vacuolar degeneration of the basal layer with presence of dermal thick collagen fibers and mononuclear inflammatory cellular infiltration. This picture was consistent with linear scleroderma overlapping PRS.
PRS is a rare neurocutaneous disorder of unknown origin. It is characterized by slowly progressive facial hemiatrophy affecting all tissue layers from skin to bone and frequently (2131%) overlaps with a condition known as linear scleroderma en coup de sabre. It has a prevalence rate of 1 in 70,000 with no difference in rates between different ethnic groups. However, only four cases were reported from Africa in the English language literature: Gueye A,et al., Singh M,et al., Ilhame N,et al., and Elsaid N,et al. from Senegal, Libya, Morocco, and Egypt, respectively. It affects mainly females and usually involves the left side of the face. In most patients (71%), disease onset commences before the age of 15years and only 8% had an onset after the age of 25years, as was the case in our patient. Earlier onset and longer duration of PRS have been reported to relate to increased severity of the disease [11,12,18,19,20]
A cerebral disturbance of fat metabolism and atrophic malformation of cervical sympathetic nervous system have been proposed as the primary cause. Other possible factors that are involved in the pathogenesis include trauma, infections (Borrelia burgdorferiand viral), heredity, endocrine disturbances, and autoimmunity [21,22].
It is associated with different systemic manifestations. It commonly affects the dermatomes of one or multiple branches of the trigeminal nerve with atrophy of the skin and underlying structures (soft tissues, muscles, and bones) and can also affect the eye (enophthalmos, uveitis, retinal vasculitis, glaucoma, central retinal artery occlusion, heterochromic iridocyclitis, restrictive strabismus, Coats disease, papillitis, optic atrophy, and neuroretinitis), the pupil (Horner syndrome, pupillary abnormalities), and hair (band-like alopecia). Also, various oral involvements have been described (unilateral tongue atrophy, jaw hypoplasia, wasting of the muscles of mastication, short roots on affected side, deficiency of soft and hard palate, delayed ipsilateral tooth eruption, and unilateral crossbite). The most commonly seen neurological involvements are epilepsy (60.5%) followed by pain (44.2%); moreover, cerebral vascular malformations have been seen (11.5%) [4,12].
Fascia grafts, muscle grafts, pedicle flaps, microvascular free flaps, and free fat grafts injection of aspirated fat and alloplastic graft materials. Some surgical modalities classify the depression type caused by the disease and afterward select the surgical technique to be used [22,23,24].
PRS is a very rare entity causing progressive hemifacial atrophy that could also be associated with linear scleroderma.
It has devastating outcomes due to its various systemic involvements; therefore, a multidisciplinary approach is required together with further studies to be performed in order to identify the key etiology and construct a clear guideline for management.