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Lipoid proteinosis- Urbach wiethe disease - A rare case... dr.suresh kumar

A rare case report...
Dr. Suresh Kumar
International Journal of Recent Trends in Science and Technology Volume 10, Issue 2, 2014.

Please find your Research Article IJRTSAT_10_2_24.

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Lipoid proteinosis- Urbach wiethe disease - A rare case... dr.suresh kumar

  1. 1. Lipoid proteinosis / Urbach-Wiethe disease DR. R.SURESH KUMAR RADIOLOGY PG Svs medical college Mahabubnagar AP
  2. 2. Urbach-Wiether disease (named after Erich Urbach and CamiloWiethe) synonyms: “lipoid protenoisis” or “hyalinosis cutis et mucosae”
  3. 3. Lipoid proteinosis (LP) or Urbach-Wiethe disease rare genodermatosis characterized by multisystem involvement due to intracellular deposition of an amorphous hyaline material
  4. 4. Frequency International Very rare and till date not more than 500 cases have been reported from all over the world Mortality/Morbidity Life span is usually normal unless altered by laryngeal obstruction or epilepsy. Patients with significant airway compromise may require permanent tracheostomy Race Patients of European ancestry are most commonly affected, including South African descendants of German or Dutch immigrants
  5. 5. Urbach-Wiether is a disease not a syndrome  a genetic mutation in chromosome 1 inherited in autosomal recessive fashion that explains all of the symptoms of the condition Both sexes are affected equally The mutation affects a protein in the extracellular space (also called matrix) that is present in all tissues and organs.
  6. 6. A glycoprotein produced by the normal ECM1 gene is expressed in skin, mucosa and the entire human viscera Mutation in this gene leads to deposition of hyaline like material in the skin and viscera in abnormal amounts which is the cause of clinical manifestations.
  7. 7. Segment of the long arm of Chromosome 1, where the ECM1 mutation occurs at 1q21.
  8. 8. LP is caused by mutations in the extracellular matrix protein 1 (ECM1) gene
  9. 9. •Age Patients typically present in early childhood, but manifestations may be present at birth Some cases may occur in adults. Adults may have subtle skin findings and may present with complications due to visceral deposition •History A weak or hoarse cry from birth or starting in early infancy is typical and remains throughout life •Cutaneous manifestations usually arise during the first 2 years of life
  10. 10. Recurrent , variable sized , vesicles, pustules, bullae and hemorrhagic crusts Resolution of the lesions occurs with permanent, poxlike atrophic scarring.Resolution of the lesions occurs with permanent, poxlike atrophic scarring.Resolution of the lesions occurs with permanent, poxlike atrophic scarring. Resolution of the lesions occurs with permanent, poxlike atrophic scarring. face and distal extremities are the most common sites EARLY SKIN MANIFESTAIONS
  11. 11. • skin develops a waxy, thickened, yellowish appearance due to dermal infiltration •Papules, plaques, and nodules arise on the face, axillae, and scrotum LATE SKIN MANIFESTATIONS •Moniliform blepharosis
  12. 12. A pathognomonic sign is a row of beaded papules along the eyelid margins, resembling a string of pearls; this is termed moniliform blepharosis beaded papules along the eyelids (moniliform blepharosis) and partially missing eyelashes
  13. 13. Beading (the formation of nodules) around the eyelids is common
  14. 14. Hyperkeratotic, verrucous plaques may arise in sites of trauma, particularly the elbows, knees, and dorsum of the hands Waxy plaques on elbows resembling xanthomas
  15. 15. ORAL CAVITY •Pebbling of the lip mucosa imparts a cobblestone appearance, which may also involve the tongue and gingiva •Infiltration of the tongue and frenulum results in a woody firmness and impaired mobility Thickening of frenulum •Hypoplasia or aplasia of the teeth, particularly the lateral incisors and premolars, may occur •Recurrent parotitis may occur as a consequence of infiltration of the Stensen duct. Transient swelling and ulceration of the lips and tongue
  16. 16. Infiltration of the larynx, vocal cords, and surrounding structures may produce hoarseness, dysphagia, and airway obstruction UPPER AIRWAY
  17. 17. CENTRAL NERVOUS SYSTEM A classic and pathognomonic radiographic finding is bilateral, intracranial, bean-shaped suprasellar calcifications in the temporal lobe
  18. 18. Amygdalae involvement is considered pathognomonic, being more prominent with longer disease duration Most commonly affected sites are • Amygdalae •Hippocampus • Parahippocampal gyrus or even the Striatum
  19. 19. Rare Brain Disorder Prevents All Fear
  20. 20. Curvilinear hyperattenuated horn-shaped lesions are well depicted by CT in the amygdaloid bodies On MR imaging, such lesions are hypointense in all pulse sequences, especially in GRE T2* weighted images
  21. 21. Axial plain CT reveals bilateral, symmetrical calcification on anterior and medial aspects of both temporal horns
  22. 22. 3D-volume rendering reformation from a volume CT acquisition shows, in perspective, the 2 “almond-shaped” symmetrically and mesially located calcifications
  23. 23. VRT re-construction CT image again shows para-sellar, bean- shaped calcification
  24. 24. CoronalT2W
  25. 25. well-defined, symmetrical, signal-voids antero-medial to the temporal horns, precisely corresponding to the para-sellar calcification well-defined, bilateral symmetrical, low signals noted in the antero-medial to the temporal horns, precisely corresponding to the para-sellar calcification
  27. 27. Histopathology of punch biopsy from yellowish plaques on skin showed abundant deposition of amorphous eosinophilic material surrounding the sweat glands, capillaries and in the thickened papillary dermis HISTOPATHOLOGY The hyaline like material - diastase resistant and PAS positive These findings were consistent with the radiological finding of LP.
  28. 28. DDx •EPP +Skin lesions in Erythropoietic protoporphyria (EPP) have similar appearance, the deposits are not seen around sweat glands +Increased protoporphyrin levels in erythrocytes are also seen in EPP •Deposits in amyloidosis and xanthomas have different chemical composition although externally skin might appear similar as in LP.
  29. 29. •Primary cutaneous amyloidosis +Hyperpigmented papulonodular eruptions occur, especially on the shins and upper limbs that may coalesce into thickened plaques +A skin biopsy with Congo red stain helps in making the diagnosis Xanthomatosis Myxoedema hoarseness of voice, macroglossia, thickening of skin and chronic periorbital infiltration secondary to the deposition of mucopolysaccharides frequently develop as a result of decreased thyroid hormone
  30. 30. Lichen myxedematosus +small domeshaped flesh to cream coloured, firm, waxy, lichenoid papules, arranged in a linear manner particularly on the face (glabella and behind the ears) and dorsum of hands, producing a distinctive clinical appearance.
  31. 31. calcified gliomas located in the amygdalohippocampal region in pediatric patients but they are neither bilateral nor symmetrically distributed. Raine syndrome, a rare autosomal recessive osteosclerotic bone dysplasia, is characterized, among other findings, by intracranial calcifications (mainly affects the basal ganglia )
  32. 32. Complications •Laryngeal involvement may lead to airway obstruction. Vocal cord involvement may lead to impaired speech •Intracranial calcifications may result in seizures, behavioral changes, rage attacks, and dystonia •The deposition of hyaline in the small bowel is reported to cause gastrointestinal bleeding
  33. 33. Prognosis •Lipoid proteinosis has a stable or slowly progressive course •The presence of this disease is compatible with a normal life span unless altered by airway obstruction or fatal seizure activity •Mortality rates in infants and adults are slightly increased because of laryngeal obstruction.
  34. 34. Patient Education The parents should be educated about the risk of having affected offspring
  35. 35. KEY POINTS •Bilateral symmetric amygdaloid calcifications •Moniliform blepharosis