Year : 2006 | Volume
: 51 | Issue : 1 | Page : 49--50
Sumit Sen, Gautam Roy, Debabrata Bandopadhyay
Department of Dermatology, STD & Leprosy, R.G. Kar Medical College and Hospital, Kolkata, India
CG-75, Sector II, Salt Lake, Kolkata - 700 091
Lipoid proteinosis, a rare autosomal recessive disorder, results from the deposition of hyaline material in the skin, mucous membrane and different organs of the body resulting in a multitude of clinical manifestations. Here the case of a 12 year old boy, of non-consanguineous parcentage, with classical beaded papules along the eyelid margin, waxy facial skin and a history of repeated skin infections that left scars over his face and body. Apart from hoarseness of voice he had no other systemic manifestation. No other member in his family was involved.
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Sen S, Roy G, Bandopadhyay D. Lipoid proteinosis.Indian J Dermatol 2006;51:49-50
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Sen S, Roy G, Bandopadhyay D. Lipoid proteinosis. Indian J Dermatol [serial online] 2006 [cited 2020 Jul 7 ];51:49-50
Available from: http://www.e-ijd.org/text.asp?2006/51/1/49/25194
Lipoid proteinosis is an autosomal recessive disorder which is also known as Urbach-Weithe disease and hyalinosis cutis et mucosae. It usually presents in infancy with various cutaneous features like acneiform pock-like scars over face and body, waxy papules, nodules and plaques, eyelid beading and some systemic features all due to the deposition of hyaline like material in the skin, mucous membrane and other organs of the body. At times a patient may present with many cutaneous lesions but with only mild systemic involvement. This hyaline material is PAS positive and diastase resistant. Recent studies have demonstrated that it is caused by mutations in the extracellular matrix protein 1 [ECM1gene]., It is a benign disorder but as it can affect the quality of life and also produce systemic complications, cases need regular follow up.
A 12 year old Bengali Muslim boy presented to our clinic with the complaints of recurrent pyogenic infections for the last 6 years and hoarseness of voice since infacy. He did not have any history of convulsion, neuropsychiatric disorder, photosensitivity or any other systemic complaint. His parents were not related to each other and he was the younger of two siblings. His elder brother did not have any similar type of complaint.
On examination he was found to be a healthy boy looking to his age. His mental development was normal. His face ws waxy and shiny with multiple pock marks [Figure 1]. There were papules along the eyelid margin in a linear disposition [Figure 2]. The upper limbs, upper back and shoulders were covered with multiple pustules, erosions and depressed scars. His voice was hoarse but there were no abnormalities of the hair, nail or oral mucosa. He was sent to the ENT department where a thorough clinical examination including laryngoscopy revealed no abnormality. Routine investigations including a complete hemogram and serum chemistry panel, were found to be within normal limits. EEG and CT scanning were not done. A skin biopsy was taken from a yellowish papule over the right arm and the histopathology of this specimen showed collection of hyaline like material around the blood vessels and adnexae in the upper dermis [Figure 3], a finding consistent with the diagnosis of lipoid proteinosis.
Lipoid proteinosis, also known as Urbach - Weithe disease is a very rare autosomal receissive, chronic disease affecting the skin, oral cavity, larynx and internal organs characterized by the deposition of hyaline like material in the skin and various organs of the body. It is more common among Europeans but has been reported from other parts of the world too such as Japan, India and South Africa. It has also been reported to occur among siblings and the xex ratio has been found to be equal. Parental consanguinity, missing in the history of our case, has been reported in 20% of cases. The exact nature of the hyaline material is not known and neither is the metabolic defect responsible for the disease. Recently, evidence has shown that lipoid proteinosis is the result of reduced expression of extracellular-matrix-protein (ECM-1) gene (composed of two alternatively spliced isoforms, ECM-1a and ECM-1b, the latter lacking exon 7 of this 10-exon gene) mapped to chromosome 1 is the fibroblasts.
The first clinical manifestation generally is hoarseness of voice, which is usually present since birth or early infancy. Occasionally it may start from childhood. In the case of our patient hoarseness ws present since infancy. The hoarseness is due to the deposition of hyaline material in the laryngeal mucosae and at times can progress to aphonia fortunately without breathing difficulties. The tongue is usually enlarged, feels firm on palpation and its mobility may be restricted (our patient's tongue was firm but not fixed). The mucosa of the vagina and labia may also be similarly involved. The classical clinical features are the beaded papules, which are usually present along the eyelid margins. These can be bilateral and can be present on both upper and lower eyelid margins and are known as moniliform blepharosis. At times however these beaded papules may be very subtle in some patients.
These patients are very subceptible to minor trauma and infections can occur easily. These usually heal with acneiform scars. The face and extremities in many of the cases are covered with pock marked scars. Scalp involvement may lead to loss of hair and alopecia has been reported though not commonly. When present, the alopecia is usually patchy.
the other cutaneous manifestations that are usually seen include waxy papules, nodules and plaques on the trunk, flexures and extremities. In adolescents or older patients verrucous lesions resembling xanthoma are seen over the elbows, knees and buttocks.
Lipoid proteinosis is a rare chronic cutaneous disease which can involve many organs of the body but is benign in nature. Diagnosis is usually possible in early childhood and can be confirmed by characteristic histopathology. Treatment is unsatisfactory and though it rarely causes death (by laryngeal obstruction) the disease significantly affects the quality of life. The present case showed clinical cutaneous features with hoarseness of voice without any othe rsystemic manifestation.
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