Lipoid proteinosis

Introduction to lipid-like proteinosis Lipoid proteinosis, also known as Urbach-Wiethe disease, hyalinosiscutisetmucosae, is a rare hereditary disease that often occurs in infants, mainly in the skin, mucous membranes or internal organs. Eosin transparent substance deposition, clinical features of eyelid thickening, elbow knee yellow tumor-like plaque with hoarseness. basic knowledge The proportion of illness: 0.0002% Susceptible people: no special people Mode of infection: non-infectious Complications: Diabetes Epilepsy

Causes of lipoid proteinosis

(1) Causes of the disease

Genetic studies have found that this disease is autosomal recessive, and the exact cause of its metabolic disorder is still unclear.

(two) pathogenesis

Regarding the properties of transparent substances deposited in tissues, Urbach-Wiethe originally thought that it was a phospholipid protein by histochemical staining. Later, many scholars discovered that there are also glycoproteins, triglycerides, neutral fats and various lipid mixtures. In the years of observation of fibroblast culture and ultrastructure, it was proposed that transparent substances are mainly glycoproteins produced by fibroblasts, and the accumulation of lipids in the lesion is not a primary metabolic defect but a subsequent discovery. It may be that there is an affinity relationship between lipoproteins and glycoproteins.

Lipid-proteinosis prevention

Avoid the sun. Secondly, the disease has a genetic predisposition, so it is necessary to make a pregnancy check before pregnancy to prevent future generations from getting involved.

Lipid-proteinosis complications Complications, diabetes, epilepsy

The disease is often accompanied by abnormal teeth and certain systemic diseases such as diabetes, and epileptic or psychiatric symptoms caused by lipoprotein deposition in the brain.

Lipid-like proteinosis symptoms common symptoms calcification calcification nodules papules dysphagia hoarseness parotid gland swelling hard spots hair loss eyelashes drop

The disease is clinically divided into two types, the original hairstyle is also called non-light-sensitive type, and the subsequent hairstyle is light-sensitive.

1. Original hair (non-light-sensitive type): This type occurs in infants, and slight skin inflammation and injury can form scars. When the baby is born or soon after birth, hoarseness can occur, becoming the main symptom of infancy, pharynx, The tongue and lip mucosa can be seen as yellow-white infiltrating plaque, and the texture is hard. In addition, a wide range of yellow infiltrates are seen in soft palate, tonsil arch, uvula and sublingual, and the surface is irregular, and the tonsil is covered with a layer of white hard spots. Laryngeal involvement is often severe, epiglottis and vocal cords can be seen with nodules, tongues are enlarged, and the touch is hard and "woody", resulting in limited range of motion and can not extend beyond the lips, and may even cause difficulty in swallowing. When infiltrating the parotid gland duct When it can cause recurrence of parotid swelling and pain, occasionally vaginal mucosa and labia may also be affected.

Skin changes gradually prominent in childhood, yellow-brown nodules on the face, hair loss on the scalp, and rash on the upper and lower rim or eyelids appear as bead-like papules or thickening of the eyelids with lashes, at the elbows, knees The skin lesions are similar to xanthoma. If the skin is traumatic, the skin gradually infiltrates in the traumatic area, the color becomes dark and brown, and the surface is obviously keratinized and appears to be like a common sputum on the back of the hand.

The disease is often accompanied by abnormal teeth and certain systemic diseases such as diabetes, epilepsy or psychiatric symptoms caused by lipoprotein deposition in the brain, and calcification can be found on the cranial X-ray film.

2. Follow-up (light-sensing type): This type is essentially erythropoietic protoporphyrin disease, which is sensitive to light, so skin changes mainly caused by inflammation and secondary changes in exposed parts appear.

Examination of lipidoid proteinosis

Calcification can be found on the cranial X-ray film, histopathology: epidermal hyperplasia, irregular thickening or atrophy of the spinous layer, characteristic changes in the dermis, visible thickening of the dermis, vasodilation, thickening of the vessel wall In the superficial layer of dermis, there is an extracellular eosin-transparent substance, which begins to deposit along the capillaries, and concentrically deposits around the sweat glands. Then, these substances develop into a broad-band deposit in the deep dermis, and the PAS staining of the transparent substance is strongly positive, amylase. It can not be digested, protein staining is positive, crystal violet staining is negative, fine lipid droplets can be found in the transparent area, especially around the blood vessels, and type IV and type V collagen are increased around the dermal blood vessels, and type I and type III collagen are reduced. Calcification can be found on cranial radiographs.

Diagnosis and identification of lipidoid proteinosis

diagnosis

According to the onset of infancy, there are hoarseness, stiff tongue and thickening, and the general diagnosis of skin xantho-like lesions is not difficult. Pathological examination is helpful for diagnosis.

Differential diagnosis

Should pay attention to the identification of amyloidosis, mucinous edematous moss.

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