: Hypohidrotic ectodermal dysplasia (HED) is the most common type of that result faulty development leading to such defects as hypotrichosis, anodontia or hypodontia, and hypohidrosis anhidrosis. X-linked HED caused by mutations in ectodysplasin A (EDA) gene accounts for 90% all cases. Autosomal other involved genes, EDA-receptor (EDAR) gene. In this study, we included two distinct families wit...

Virender Kumar, Lalit Kumar Dr HSJ Institute of Dental Sciences and Hospital Panjab University Chandigarh, India Ectodermal dysplasia (ED) is a hereditary disease characterized by anomalies in the structures of ectodermal origin. The disease affects skin, saliva, sebaceous and sweat glands (anhidrosis or hypohidrosis), hair (atrichosis or hypotrichosis), nail and teeth (anodontia or hypodontia)...

The NTRK1 gene encodes the high affinity receptor for Nerve Growth Factor, and its action regulates neural development and differentiation. Deregulation of NTRK1 activity is associated with several human disorders. Loss of function mutations cause the genetic disease Congenital Insensitivity to Pain with Anhidrosis (CIPA). Constitutive activation of NTRK1 has been detected in several tumor type...

Dear editor, Horner's syndrome (HS) results from interruption of sympathetic nervous supply to the eye and manifests clinically with partial ptosis, miosis and enophthalmos, along with anhidrosis of face on the affected side. [1] HS is not an uncommon finding in patients visiting emergency department (ED), being reported in those with brainstem strokes, myelitis, malignancies of lung and thyroi...

The predominant features of Harlequin syndrome are unilateral facial flushing and sweating. Harlequin syndrome has been reported in different clinical conditions including brain stem infarction, superior mediastinal neurinoma, and internal jugular vein catheterization.1,2 Idiopathic and iatrogenic cases have been reported. The clinical features of Horner syndrome are ptosis, miosis, enophthalmo...

Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia, the most common form of ectodermal dysplasia. Males show a severe form of this disease, while females often manifest mild to moderate symptoms. We identified a missense mutation (c.463C>T) in the EDA gene in a Jordanian family, using direct DNA sequencing. This mutation leads to an amino acid change of arg...

BACKGROUND Triple A or Allgrove Syndrome (OMIM#231550) is a rare, autosomal recessive genetic disorder in which patients typically suffer from chronic adrenal insufficiency due to resistance to ACTH (Addison's disease), esophageal achalasia, and defective tear formation (alacrima). The syndrome is caused by mutations in the AAAS gene on chromosome 12q13 encoding a 546 aminoacid protein named al...

In this study we introduce new hypothesis into the anatomical-structure, head, and neck, neuro-embryology, nerves muscles, followed by physiologic-variants, operational / surgical implications considerations then lastly clinical significancy of study. The wound/damage to cervical altruistic ganglia can elicit syndrome-of-Horner, which is ipsilateral ptosis, miosis, also facial scrub—anhidrosis....

Raeder described five patients with mixed features of trigeminal nerve pathology and oculosympathetic impairment, with or without other cranial nerve lesions. This constellation of clinical features drew the original author’s attention to the paratrigeminal region as a likely site for the causative lesion in this syndrome. An analysis of the anatomy of the oculosympathetic innervation supports ...

Congenital insensitivity to pain with anhidrosis (CIPA) is a very rare autosomal recessively inherited disorder. The main clinical features of the disorder consist of absence of reactions to noxious stimuli and inability to sweat under any conditions.In this case report, a 3-year-old Chinese boy diagnosed with CIPA presented with the core features of CIPA, including insensitivity to noxious sti...