Orange peel appearance on the flexion of the extremities

Introduction The orange-skinned appearance appears on the flexor side of the limbs: many small point-like depressions appear on the flexor skin of the limbs, just like orange peel. The disease is caused by pseudooxanthoma elasticum (PXE). Elastic pseudo-xanthomatosis is characterized by skin lesions, visceral hemorrhage, premature calcification, occlusive vascular disease and complications such as angina pectoris, lameness, hypertension, and changes in fundus vascular streaks, which are common in young women. Special effects therapy, more symptomatic treatment. The cause of the disease is still unclear.

Cause

The cause of the disease is unknown.

Pathogenesis

The pathogenesis is still unclear. Most people think that it is related to congenital factors. The following aspects are considered:

Family Genetics: Touroine collected 238 cases reported in the literature, of which 114 had a family history. Stemmerman mentioned in the report that 5 of the 9 sisters of the Streiff and Portman families developed the disease, which is inherited by autosomal recessive inheritance. Pope proposed two kinds of hereditary methods: dominant and recessive. Viljoen et al. said that 64 cases of PXE were consistent with autosomal recessive inheritance, and their severe visual impairment was not proportional to the degree of skin involvement.

Endocrine Disorder: Due to the clinical manifestations of the disease, there are thyroid or thymus hypertrophy, ovarian dysfunction, it is inferred that the disease may be related to endocrine disorders.

Metabolic Disorder: The disease may be caused by elastic fiber formation and metabolic abnormalities and decreased skin collagen content and procollagen proline hydroxylase activity due to elastin synthesis disorders.

Pathology: The histological examination of the skin showed that there were elastic lesions, rupture and swelling of the elastic fiber-like material in the lower and middle layers of the dermis. In addition, calcium staining which was stained with Kossa and dark brown was observed in the same site. The same fibrosis is also seen in the vessel wall, choroid basal layer, endocardium and epicardium. Angioplasty is caused by degeneration of the choroidal basal layer of elastic fiber-like material.

an examination

Related inspection

Urine routine blood routine

Blood routine: Repeated gastrointestinal bleeding can have varying degrees of anemia.

Urine routine: occasionally gross hematuria, some patients may have microscopic hematuria.

Biochemical examination: combined with hyperthyroidism, elevated thyroid hormone. Those with diabetes, elevated blood sugar, etc.

X-ray examination: chest radiograph shows left ventricular hypertrophy, which may be associated with aortic calcification. When there is cardiac insufficiency, it can be shown as X-ray signs of heart failure. Angiography can show stenosis or occlusion of the limb arteries, and renal artery stenosis can be found in hypertensive patients. Coronary angiography showed luminal stenosis.

Differential diagnosis

According to the skin with more friction, yellowish to orange rash and thickening of the skin, poor elasticity, relaxation, and characteristic fundus lineage and visceral embolism symptoms and signs in the fundus can diagnose the disease.

In the differential diagnosis, attention should be paid to the identification of sclerotic atrophic moss, scleroderma, and flaccid disorder. None of the above diseases manifested in the skin, fundus and blood vessels at the same time as the disease.

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