After the clinical diagnosis from evidence of ptosis, myosis, enophthalmos, and
anhidrosis, an neurological (sensory level and motor function) and cardiorespiratory (continuous monitoring of blood oxygen saturation with pulse oximetry, electrocardiography, and non-invasive blood pressure) exploration was initiated.
Congenital insensitivity to pain with
anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy (type IV) is an extremely rare autosomal recessive disorder.
When a patient with congenital insensitivity to pain with
anhidrosis seriously injures himself/herself, injury is generally not recognized and permanent wounds occur as a result.
Horner's syndrome comprises ipsilateral partial ptosis, pupillary meiosis, apparent enophthalmos, facial
anhidrosis, heterochromia of the irides (if before age two or congenital), and transient decrease in intraocular pressure.
There is no specific treatment for
anhidrosis, but treatments may be available for the underlying cause.
Anhidrosis of lower extremities is seen in more than 50% of these patients at quantitative sudomotor axon reflex testingDependent blood pooling when upright is greater than normal and heart rate and contractility increase as normal compensatory physiologic mechanisms to maintain cerebral perfusion.
Ademas, de las lesiones cutaneas, se produce desmielinizacion segmentaria lo que ocasiona dano en los axones de las terminaciones nerviosas y de los troncos nerviosos perifericos, todo esto gracias a la inflamacion granulomatosa desencadenada por la micobacteria, expresandose como una disminucion de la sensibilidad y
anhidrosis en las lesiones, acompanado de deficit motor y autonomico.
Ashlyn Blocker, loves pageants and playing the clarinet, but was born with a congenital insensitivity to pain with
anhidrosis (CIPA), a disorder that affects the way signals travel from her central nervous system.
7-10) Facial dysmorphism was also reported in an 8 years-old boy with congenital insensitivity to pain and
anhidrosis (CIPA, HSAN-IV).
Los pacientes se diagnosticaron como esclerodermia localizada (morfea) mediante criterios clinicos: lesiones localizadas inflamatorias con borde violaceo, con bordes bien delimitados, alopecia y
anhidrosis, hiperpigmentadas o hipopigmentadas, con fibrosis y atroficas e histopatologicos: atrofia epidermica y un engrosamiento e induracion de la dermis, dado por excesivo deposito de colageno (15).
Retardo del crecimiento prenatal Retraso del crecimiento postnatal Microcefalia Estatura corta Defectos de craneo (fontanela anterior amplia) Hipertelorismo Ojos prominentes Cejas arqueadas Ptosis Nariz prominente/larga Orejas de implantacion baja/posteriores/anguladas Paladar arqueado/hendido Micrognatia / amontonamiento dental Caderas dislocadas Movimientos del hombro limitados Movimientos del codo limitados Movimientos metacarpofalangicos limitados Movimientos de las rodillas limitados Clinobraquidactilia Sindactilias / dedos hipoplasicos /ausentes Anormalidades del cuero cabelludo Hipoplasia de pezones Hipodontia /dentadura primaria retenida
Anhidrosis / hipofidrosis Cognicion normal Tabla 3.
The autonomic manifestations include orthostatic hypotension, impaired vagal regulation of heart rate (cardiovagal failure),
anhidrosis, impotence, and urinary incontinence or retention, which may precede the motor symptoms (86).
