Penetrating skin degeneration

Introduction The clinical manifestations of skin damage in elastic pseudo-xanthoma are calcification of the epidermis of the skin or penetrating skin degeneration. Pseudoxanthoma elasticum was once called diffuse xanthelasma in the early stage, and later has atypical yellow tumor, which is called dystrophic elastic fiber disease. Due to different genetic methods, it can be divided into autosomal dominant and autosomal recessive, each type is divided into two groups, clinically more common in chromosomes I, II and autosomal recessive I, and often The chromosomal recessive group II is relatively rare, and usually the dominant hereditary symptoms are more serious than recessive.

Cause

The disease belongs to the whole body elastic fiber disorder, and the cause is still unknown. Most people think that it is related to congenital factors. The following aspects are considered:

1. Family genetics: According to the fact that the disease has a family history, it is considered that the disease is related to heredity.

2. Endocrine disorders: thyroid or thymus hypertrophy, ovarian dysfunction, can cause the disease, it is inferred that this disease may be related to endocrine disorders.

3. Metabolic disorders: Some people have performed skin histological examination of this disease and found that there are elastic fiber formation and metabolic abnormalities. It has also been found that the skin collagen content of the lesion and the activity of the procollagen proline hydroxylase are decreased.

an examination

Related inspection

Fundus examination

The disease occurs in young women. There are mainly skin damage, cardiovascular damage, digestive tract lesions, ocular lesions, neuropsychiatric lesions, and renal lesions.

1. Main clinical manifestations

(1) Skin damage: generally occurs in adolescence, but can also be seen shortly after birth. Symptoms of rash, occur in the neck, umbilical, axillary and groin and other folds, can also be found in the oral cavity, nasal mucosa, even in the vagina or rectal mucosa. Skin thickening, poor elasticity, and relaxation. The rash has a large needle to a large bean, which is a pale yellow to orange pimples or small nodules, which are clustered or fused into a network. A part of the pores are enlarged, such as "pilled chicken skin", and the appearance is orange peel. There have also been reports of calcification of the epidermis or the occurrence of penetrating skin degeneration. Some patients may have excessive skin stretching, but not necessarily a rash.

(2) Cardiovascular damage: including peripheral vascular disease, hypertension, coronary heart disease and intimal fibrosis and calcification. When the limb arteries are involved, the pulse may be weakened or disappeared, and intermittent claudication may occur. About one-third of cases have angina attacks, but fewer acute myocardial infarctions and sudden deaths occur. Congestive heart failure may be related to a variety of factors, vascular disease and endocardial fibrosis can cause heart failure, hypertension and coronary heart disease are also important factors that promote heart failure.

(3) Digestive tract lesions: In children, gastrointestinal bleeding can occur repeatedly. The cause can be a digestive ulcer or a hiatus hernia. Gastroscopy revealed a change in the mucosal changes in the digestive tract similar to skin changes. In addition, some patients may have gastrointestinal dilatation and rectal prolapse.

(4) Ocular lesions: The retinal blood vessels in the fundus are linear, which is a characteristic change of the disease. This change manifests as a grayish-white line with thicker blood vessels and an irregular annular or radial distribution around the optic disc. Retinal hemorrhage can cause visual impairment. Proliferative changes, pigmentation, reticular macula, choroidal hyalinosis, and retinal scarring can occur with age. When the macula is involved, severe vision loss can occur. Most of the fundus changes occur simultaneously with skin changes and repeated bleeding in the digestive tract.

(5) neuropsychiatric lesions: neuropsychiatric symptoms can be caused by cerebrovascular disease, mild hemiplegia, mental abnormalities, subarachnoid hemorrhage, basilar artery insufficiency, epilepsy, etc.

(6) Renal lesions: lesions can occur in both intrarenal and extrarenal arteries, and renal vascular involvement can lead to hypertension.

The disease can be combined with hyperthyroidism, diabetes, and Paget disease. Some people think that this disease has a certain relationship with Ma Fang syndrome and Ai Dang syndrome.

2. According to hereditary methods, the disease can be divided into 4 types:

(1) Autosomal dominant type I: manifested in the orange-like appearance of the flexor of the extremities, accompanied by severe circulatory disorders such as hypertension, angina pectoris, intermittent claudication, and ocular symptoms.

(2) Autosomal dominant type II: characteristic manifestations of pale yellow papules, high blood pressure, intermittent claudication, eye symptoms, increased skin stretch and high zygomatic arch.

(3) Autosomal recessive type I: characteristic manifestations of rash, increased skin stretch, high blood pressure, eye symptoms such as blue sclera and sacral arch and multiple joint relaxation of the body. Most cases of female gastrointestinal bleeding.

(4) Autosomal recessive type II has only increased skin stretch without rash and systemic visceral complications.

Differential diagnosis

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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