Urbach-Wiethe Sindroom (beter bekend as lipo"ied prote"inose of hyalinosis cutis et mucosae) is
'n seldsame, outosomaal-oorerflike siekte. Die kenmerkendste simptome van die siekte is
vel- en slymvliesveranderinge wat deur 'n neerslag van ekstrasellulere hialienagtige materiaal van
onbekende oorsprong veroorsaak word. Die vel word maklik beseer, genees stadig en lelike,
pokagtige letsels ontstaan. 'n Fyn, korrelagtige neerslag op die ooglede, die sogenaamde
"kralestringvoorkoms" kenmerk die siekte, sowel as heesheid, die prominentste en lastigste
simptoom, wat sedert geboorte teenwoordig kan wees. Radiografie en tomografie toon
bilaterale,boontjievormige verkalking op die temporale lobbe van die brein, wat tot epileptiese
aanvalle en ander neuropsigiese simptome soos geremde geheue en aggressie lei.
Heesheid veroorsaak kommunikatiewe beperkinge vir die lyer,terwyldie opsigtelike velletsels
aversiewe- en die verkalkings onsigbare beperkinge meebring.
Die lyer aan Urbach-Wiethe Sindroom kan volgens die beginsels en kriteria van die
medies-kliniese, die persoonsgeorienteerde en die sosio-omgewingsperspektiewe gestremdheid
ondervind. Teoreties kan die lyer se belewinge van sy andersheid en die nie-aanvaardingdeurdie
gemeenskap, soos by gestremdes,die handhawing van sy selfagting rem, sodat 'n negatiewe
selfkonsep tot skuldgevoelens, angsbelewinge en depressie kan lei.
'n Betekenisvolle verband is in die empiriese ondersoek tussen die graad van aantasting en
wanaanpassing in die lyer se leefwereld gevind. Die lyers wat ernstig aangetas is, identifiseer
moeilik met hulle fisieke voorkoms. ldentiteitsvorming word gerem en die selfagting is
negatief. Hulle openbaar 'n negatiewe selfkonsep en depressiewe gevoelens met selfmoordgedagtes.
Hulle relasies en sosialisering is problematies en hulle voel hulle word nie deur die
gemeenskap aanvaar nie. Die lyers ondervind 'n algemene wanaanpassing in hulle leefwereld. 'n
Geval van paranoia is ook gevind. Alhoewel die ouers vrae oor die toestand het en sekere
emosies beleef, kan die meeste van hulle die situasie hanteer.
Riglyne vir 'n terapeutiese begeleidingsprogram vir lyers aan Urbach-Wiethe
Sindroom, wat op die verbetering van die selfkonsep; die hantering van depressie, aggressie en
woedebuie, asook die verbetering van relasies en sosialisering gerig is, is saamgestel. 'n
Ondersteuningsgroep waarby lyers en hulle ouers kan inskakel, is gestig.
Urbach-Wiethe Syndrome, also known as lipoid proteinosis or hyalinosis cutis et
mucosae, is a rare, recessively inherited, autosomal disorder characterized by lesions of the
skin and mucosae, caused by widespread deposition of hyaline material of unknown etiology. The
skin injures easily and heals slowly with "pock like" lesions. Bead-like deposits on the eyelids,
called "string of pearls",are often found. Present since early infancy, hoarseness is the
first, and most striking, irritating symptom. Bean-shaped intracranial calcification within the
temporallobes
of the brain in the area of the hippocampus, shown up by radiography and tomography, may
cause epileptic seizures and other neuropsychological complications like impaired memory and
aggression.
The sufferer experiences communicative impairment through hoarseness, aversive
impairment because of the conspicuous lesions, and concealed impairment as a result of the
calcifications. According to the medical-clinical,person-orientated and socio-environmental
perspectives on disability, a sufferer of Urbach-Wiethe Syndrome may experience disability.
Like disabled persons, the sufferer finds it difficult to identify with his physical
appearance. Impaired identity formation and low self-esteem cause a negative self
concept.
Feelings of guilt,anxiety and depression result from perceived dissimilarity, social rejection and
low self-esteem. Socialising is adversely affected.
A significant relationship was found in the empirical study between the extent to which the
sufferer is affected and the degree of maladjustment in his life-world. Seriously affected
sufferers display a negative self-concept and feelings of depression with suicidal thoughts.
Socialisation and relationships are problematic and sufferers feel unaccepted by the community.
General maladjustment in the life-world is experienced. A case of paranoia was reported.
Except for some questions and unresolved feelings about the disease,most parents are able to cope
with the situation.
Guidelines have been set for a therapeutic programme for sufferers from Urbach Wiethe Syndrome
aimed at enhancing self-concept, coping with depression and aggression, and improving
relationships and socialising. A support group has been ounded for sufferers and their parents.
