Disclosures: Kevin Frison, MD: No financial relationships or conflicts of interest

Case Description: Patient is a 2-month-old male infant born at 35 weeks gestation due to premature rupture of membranes to parents who are first cousins with a perinatal course complicated by gestational diabetes and postnatal course complicated by sepsis due to diminished skin integrity. Patient was referred to rehab for concern of early distal muscle contractures in the bilateral hands and feet.

Setting: Outpatient pediatric rehab

Patient: 2-month old infant with lamellar ichthyosis Assessment/

Results: Physical exam was notable for distal muscle contractures in the bilateral hands and feet, lefwardt torticollis, asymmetrical brachycephaly, nail dystrophy, large plate-like scales covering the body and thickening of the skin of palms and feet. Primitive reflexes such as Babinski, palmar and plantar grasp were muted.

Discussion: Lamellar ichthyosis is caused by mutations in the TGM1 gene and is inherited in an autosomal recessive fashion. The fact that the patient’s parents are first cousins significantly increased the risk of such a mutation. Furthermore, although there is a correlation between torticollis and asymmetric brachycephaly, it is to be considered that this patient was predisposed to contracture of his sternocleidomastoid due to tightening of skin around the neck, thus restricting range of motion. Lastly, lamellar ichthyosis is known to cause distal muscle contractures which can explain some of the muted physical exam findings. It should also be taken into consideration that there is a sensory component to this disease as the keratoderma diminishes sensation in the extremities.

Conclusion: Lamellar ichthyosis is a lifelong skin condition that can have profound effects beyond the skin. Muscle contractures may not be limited to distal extremities and the thickening of the skin has effect on sensory input. Lastly, given the constellation of symptoms, physician’s should be aware that many primitive reflexes may be present but not visible grossly.

Level of Evidence: Level V

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PM&R Meeting Abstracts - https://pmrjabstracts.org/abstract/ichthyosis-is-not-skin-deep-a-case-report/