OBJECTIVE The autoimmune mechanism is considered to play an important role in the development of acquired idiopathic generalized anhidrosis (AIGA), and muscarinic M3 receptors (M3Rs) on eccrine glands are possible autoimmune targets. We investigated the existence of autoantibodies against M3Rs in AIGA patients. METHODS We immunostained M3R-expressing cultured cells with the serum of 12 AIGA p...

ECTODERMAL DYSPLASIA IS A RARE DISORDER WITH DEFECTS IN TWO OR MORE OF THE FOLLOWING STRUCTURES: the teeth and the skin and its appendages including hair, nails, eccrine, and sebaceous glands. Anhidrotic ectodermal dysplasia is the most common type of disease. This rare disorder, also known as Christ-Siemens-Touraine syndrome, manifests as a triad of hypotrichosis, asteatosis, and anhidrosis. I...

Horner syndrome, or oculosympathetic dysfunction, was described by the Swiss ophthalmologist Friedrich Horner in 1869,1 and represents the interruption of the cervical sympathetic nervous system. It is characterized by a symptom triad: ptosis (upside down ptosis), pupillary miosis and facial anhidrosis, although some authors associate a fourth symptom to the syndrome, facial hyperemia.2 It is a...

Two patients with congenital Horner's syndrome had unilateral facial flushing. Both showed pupillary supersensitivity to epinephrine as well as anhidrosis on the affected side of the face and neck. Facial skin temperature after exercise increased on the intact side, but decreased on the affected side. Thermal vasodilation in the major portions of the face is regulated by sympathetic vasodilator...

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare disorder characterized by episodes of fever and the inability to sense of pain despite the fact that all other sensory modalities remain intact or minimally impaired. The patient also may exhibit the signs of self-mutilation, mental retardation and little or no perspiration. We present a 10 years old Iranian patient diagnosed wit...

We have studied a large Swedish family with a mutation in the nerve growth factor beta (NGFB) gene causing insensitivity to deep pain without anhidrosis (hereditary sensory and autonomic neuropathy, type V; HSAN V). Painfree joint destruction and fractures were common. Peripheral nerve conduction was normal, but temperature thresholds were increased. Sural nerve biopsies showed a moderate loss ...