[KID syndrome, pachydermatoglyphy and Dandy-Walker syndrome]

Area of Science:

• Medical Genetics
• Dermatology
• Pediatrics

Background:

• KID syndrome is a rare ectodermal dysplasia characterized by congenital ichthyosis, facial dysmorphism, and sensorineural hearing loss.
• This condition typically presents at birth and can have significant implications for a child's development and health.
• Genetic factors are implicated, though sporadic cases without a family history are documented.

Observation:

• A young girl presented with typical KID syndrome features including erythrokeratodermia, dry skin, facial erythema, and hypotrichosis.
• Ophthalmological lesions, early-onset deafness, and characteristic hand pachydermatoglyphia were noted.
• Computed tomography revealed an associated Dandy-Walker malformation of the posterior cerebral fossa.

Findings:

• The case highlights a rare presentation of KID syndrome in a child born to non-consanguinous parents with no prior family history.
• The observed clinical manifestations align with the classic phenotype of KID syndrome.
• The co-occurrence of Dandy-Walker syndrome adds a significant neurological comorbidity to this rare genetic disorder.

Implications:

• This case underscores the importance of comprehensive evaluation in suspected KID syndrome cases, including neurological assessment.
• Early diagnosis and management are crucial for addressing the multifaceted health challenges associated with KID syndrome and its comorbidities.
• Further research into the genetic underpinnings and phenotypic variability of KID syndrome is warranted.