What is hereditary symmetrical pigmentation anomalies?

Hereditary symmetrical pigmentary anomalies, a relatively rare autosomal dominant disorder. Typical lesions are reticular patches of hyperpigmentation or hypopigmentation on the fingertips, which are symmetrically distributed. The disease develops mainly in infancy and childhood and is characterized by symmetrically distributed, irregularly shaped and sized hyperpigmented and hypopigmented reticular patches on the fingertips, which are more pronounced on the dorsum of the hands and the soles of the feet, and are also very common on the face. The disease can be seen in all races, but mainly seen in Asian populations, Japan reported more, the incidence rate is about 1.5/100,000 people. The incidence rate is about 1.5/100,000. So far, only 16 families and 8 disseminated cases totaling more than 130 patients have been reported in China. The causative gene is the initiating double-stranded RNA-specific adenosine deaminase gene located at 1q21.3, which is also named ADAR gene. Clinical features: Infancy and early childhood onset. According to the literature, 73% of patients develop the disease before the age of 6 years. Clinical manifestations of the dorsal side of the fingertips, especially the dorsum of the hands and feet, can also be extended to the forearms, calves, symmetrical distribution of irregular shape and size of the pigmentation and hypopigmentation of the reticular spots, face, neck can be seen in freckle-like pigmentation spots, lesions do not go away for a long time, and it is more pronounced after sun exposure. There is no self-conscious symptom, but it affects the patient’s aesthetic appearance and causes a heavy psychological burden to the patient. Treatment: No special treatment. After middle age, the hypopigmented spots may have a gradual recovery. Prevention: autosomal dominant inheritance according to Mendelian mode of inheritance to carry out the corresponding theoretical morbidity risk assessment, molecular diagnosis and prenatal diagnosis can be carried out on the diagnosed family line of the disease-causing gene mutation spectrum.