A 2-year-old male patient from Tamaulipas, Mexico, was evaluated for generalized xerosis and fever of uncertain origin.
The product of the second pregnancy of a couple with no apparent history of consanguinity is characterized by intolerance to heat and absence of sweating from birth.
They did not refer important family history.
The physical examination revealed the forehead, hypoplasia of the nasal bridge, single faces, cone-shaped periorbital pigmentation, thin, dark hair, eyebrows and fragile eyelashes, as well
The patient presented a disseminated dermatosis to the head, trunk and mainly in upper and lower extremities, consisting of erythematous punctiform papules, with diffuse erythema in a xerotic skin.
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Skin biopsy of the palm of the left hand showed partial absence of sweat and sebaceous glands.
After obtaining the informed consent, peripheral blood was obtained to perform the karyotype study reporting normal and at the same time, non-coagulated blood was obtained following EDTA tubes (Helsinititic acid) from the relatives.
DNA was extracted from blood samples using PGENER equipment (Systema Gentra).
For the study of all exons as well as sequences of a mutation introns-exons were amplified by PCR (polymerase chain reaction) of the EDA gene.
The conditions for amplification of each PCR were 94 °C for 2 minutes, followed by 35 cycles of 94°C for 30 seconds, 55°C for 30 seconds and 72°C for 30 seconds with a final extension at 72 minutes.
The PCR products were placed in an agarose gel at 1% and were subsequently analyzed by the Direct Automatic Sequential ABI Prism 310, using the BioDyecle PeRISM Phenycleine Depression® 8.
Since the diagnosis of hypohidrotic dysplasia is commonly obtained with X-linked dermal dysplasia, it was decided to use genomic DNA, identifying the mutation synsented Ala349Thr in the hypodermic gene.
