What is McCune-Albright Syndrome?

Albright syndrome is a disease with three characteristics of multiple bone fibrous dysplasia, brown skin pigmentation, and precocious puberty. Syndrome, a rare clinical disease. Mccune-Albright Syndrome (MAS) is also known as multiple bone fiber dysplasia with precocious puberty syndrome. It is characterized by skin coffee spots, precocious puberty, and multiple bone fiber dysplasia. It is relatively rare clinically, the disease is sporadic, and the incidence of women is twice that of men.

Basic Information

Visiting department: dermatology
Multiple groups: More women than men

Common causes: Gene mutation
Common symptoms: Skin coffee spots, precocious puberty, multiple osteoporosis
Contagious: no

Causes of Albright syndrome

The genetic basis of the disease is a mutation in the guanine nucleotide binding protein (G protein) alpha subunit (Gs) gene during embryogenesis.

Clinical manifestations of Albright syndrome

The clinical manifestations are mainly the following triads. The severity of clinical symptoms is related to the timing of the embryonic mutation.
1. One or more endocrine gland hyperplasia or adenoma caused by autonomic hyperfunction. The most common is ovarian autonomic functional follicular cysts, resulting in sexual hormone activity, but no gonadotropin activity and no ovulation, leading to non-GnRH-dependent precocious puberty, manifested by early development of secondary sexual characteristics and early menstruation , Changes in sexual characteristics and vaginal bleeding stop, no ovulation. Early callus matures. Increased blood estrogen levels and low gonadotropin levels, fluctuations in estrogen levels are often consistent with autonomous changes in follicular function, and LH responses in the GnRH stimulation test are low. But long-term high sex hormone state can induce true precocious puberty. Other endocrine lesions can also cause hyperthyroidism, hypercortisolism, gigantism, acromegaly, or hyperprolactinemia.
2. Multiple bone fiber proliferation. It usually involves craniofacial and long bones, with a laterally asymmetric distribution, accompanied by facial asymmetry, often manifested as local pain and skeletal deformity, and pathological fractures are prone to occur at an early age, which decreases after adulthood. Sometimes bone proliferation can cause symptoms of local compression. For example, a skull lesion compresses nearby nerves to cause blindness and hearing loss, and compression of the pituitary gland causes endocrine dysfunction.
3. Irregular skin with coffee spots. It does not necessarily appear at birth, and it is more common on the same side of the bone lesion, and rarely exceeds the midline.

Albright syndrome test

Histopathology of pigmented skin lesions showed increased melanin in the epidermal spinal layer cells. Bone lesions can cause serum alkaline phosphatase to increase. X-ray examination of the diseased bones shows that the bones are spindle-shaped, the cortex is thin, and there are focal translucent areas.

Albright syndrome diagnosis

The diagnosis is mainly based on clinical manifestations and pathological examinations.

Differential diagnosis of Albright syndrome

The pigmented spots of this disease should be distinguished from the coffee spots of neurofibromas and the brown spots of Becker syndrome.
1. Coffee spots of neurofibromas: scattered throughout the body, ranging in size, with clear boundaries, no jagged changes, accompanied by multiple skin nodules, and no skeletal lesions.
2. Becker syndrome: scattered or fused brown spots appear on the neck and forearm after birth, and can also occur in the neck and elbow at the age of 10 with spot-like pigmentation spots, without capillary dilatation and skin atrophy.