Mental retardation hypotonia skin hyperpigmentation
Overview
Medrano-Roldan syndrome: A very rare syndrome characterized mainly by mental retardation, reduced muscle tone and increased skin pigmentation.
Symptoms
The list of signs and symptoms mentioned in various sources for Medrano-Roldan syndrome includes the 20 symptoms listed below: Mental retardation Areas of increased skin pigmentation Reduced muscle tone Curved fifth finger Broad cheeks Umbilical hernia Short neck Short stature Low set ears Round face Short big toe Simian crease Pigeon chest Malabsorption Mouth held open Protruding lips Prominent forehead Flat nose Chronic inflammatory lung disease Abnormal dermatoglyphics Note that Medrano-Roldan syndrome symptoms usually refers to various symptoms known to a patient, but the phrase Medrano-Roldan syndrome signs may refer to those signs only noticable by a doctor.
Causes
Acanthosis nigricans This soft velvety-brown verrucous pigmentation is found most commonly in the skin folds and may have associated skin tags. It typically occurs in individuals younger than age 40, may be genetically inherited, and is associated with obesity or endocrinopathies, such as hypothyroidism or hyperthyroidism, acromegaly, polycystic ovary disease, insulin-resistant diabetes, or Cushing’s disease. When seen in individuals older than age 40, this disorder is commonly associated with an internal malignancy, usually adenocarcinoma, and most commonly of the GI tract or uterus; less commonly of the lung, prostate, breast, or ovary. Acanthosis nigricans of the oral mucosa or tongue is highly suggestive of a neoplasm, especially of the GI tract. This skin condition commonly regresses with successful treatment of the neoplasm and may recur with reoccurrence of the disease. TopAcromegaly This disorder results from a pituitary tumor that secretes excessive amounts of growth hormone after puberty. Hyperpigmentation (possibly acanthosis nigricans) may affect the face, neck, genitalia, axillae, palmar creases, and new scars. Skin appears oily, sweaty, thick, and leathery, with furrows and ridges formed over the face, neck, and scalp. The tongue is enlarged and furrowed; lips are thick; and the nose is large. Body hair is markedly increased. The hands are broad and spadelike. Marked prognathism interferes with chewing. TopAdrenocortical insufficiency (Addison’s disease) This disorder produces diffuse tan, brown, or bronze-to-black hyperpigmentation of both exposed and unexposed areas of the face, knees, knuckles, elbows, antecubital areas, beltline, palmar creases, lips, gums, tongue, and buccal mucosa (where hyperpigmentation may be bluish black). Normally pigmented areas, moles, and scars become darker. Early in the disorder, hyperpigmentation occurs as persistent tanning after exposure to the sun. Some patients (usually female) lose axillary and pubic hair; about 15% have vitiligo. Patients may develop slowly progressive fatigue, weakness, anorexia, nausea, vomiting, weight loss, orthostatic hypotension, abdominal pain, irritability, weak and irregular pulse, diarrhea or constipation, decreased libido, amenorrhea, syncope and, sometimes, an enhanced sense of taste, smell, and hearing.