Hidrotic ectodermal dysplasia
Hidrotic ectodermal dysplasia is a rare genodermatosis which is also known as Clouston syndrome. The patients nails may be too thick, too brittle, too bent or have different colors, their hair also appear mottled, sparse and other abnormalities. These symptoms often begin when the patient is an infant. Diagnostic methods
Genodermatosis is often rare and varied, but diagnostic methods have some commonalities, the diagnosis of rare genodermatosis is basically divided into six steps: 1. Each genodermatosis has different clinical manifestations. People can observe the special features and changes of the skin to judge whether they are sick or not. Features will be different in different age groups, so it is necessary to observe and record the special features of the skin in each age group; 2. Genodermatosis is a hereditary disease, knowing as much as possible about a detailed and complete family history helps in screening and diagnosis; 3. People can do a detailed physical examination to observe the special features and manifestations of other organs besides skin. It can help to narrow down the disease and make a definitive diagnosis; 4. People can carry out laboratory tests such as skin biopsies with high-tech and precise scientific instruments to have further results; 5. Different genodermatosis and their clinical manifestations may be caused by abnormalities in the same gene, and abnormalities in different genes may also lead to the same clinical manifestations. In order to have a definitive diagnosis or identify complex and specific types of genodermatosis, genotype–phenotype correlation needs attention; 6.
Familial male-limited precocious puberty, often abbreviated as FMPP, also known as familial sexual precocity or gonadotropin-independent testotoxicosis, is a form of gonadotropin-independent precocious puberty in which boys experience early onset and progression of puberty. Signs of puberty can develop as early as an age of 1 year.The spinal length in boys may be short due to a rapid advance in epiphyseal maturation. It is an autosomal dominant condition with a mutation of the luteinizing hormone (LH) receptor. As FMPP is a gonadotropin-independent form of precocious puberty, gonadotropin-releasing hormone agonists (GnRH agonists) are ineffective. Treatment is with drugs that suppress or block the effects of gonadal steroidogenesis, such as cyproterone acetate, ketoconazole, spironolactone, and testolactone. Alternatively, the combination of the androgen receptor antagonist bicalutamide and the aromatase inhibitor anastrozole may be used.Robert King Stone, personal physician to American president Abraham Lincoln, described the first case of FMPP in 1852. See also
Follicle-stimulating hormone insensitivity
Gonadotropin-releasing hormone insensitivity
Hypergonadism, hyperandrogenism, and precocious puberty
Inborn errors of steroid metabolism
Leydig cell hypoplasia (or LH insensitivity)

References
External links
Testotoxicosis at NIHs Office of Rare Diseases