Harlequin Ichthyosis Clinical Presentation

Updated: May 07, 2019
  • Author: Fnu Nutan, MD, FACP; Chief Editor: Dirk M Elston, MD  more...
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Presentation

History

Harlequin ichthyosis manifests at birth. Harlequin ichthyosis may or may not have been diagnosed prenatally in a high-risk family. The history should explore the following questions:

  • Are the parents consanguineous?

  • Have they had a previous child with ichthyosis?

  • Does the family have a history of severe skin disorders?

  • Do the parents or family members have a history of intrauterine or neonatal death?

  • What was the expected date of delivery?

  • Were decreased fetal movements or intrauterine growth retardation noted during the pregnancy?

  • Did the mother undergo prenatal ultrasonography?

  • Were prenatal procedures (eg, amniocentesis, chorionic villus sampling) performed?

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Physical Examination

The following findings may be noted on physical examination in the newborn period:

  • Skin: Severely thickened skin with large, shiny plates of hyperkeratotic scale is present at birth. Deep, erythematous fissures separate the scales.

  • Eyes: Severe ectropion is present. The free edges of the upper and lower eyelids are everted, leaving the conjunctivae and cornea at risk for desiccation and trauma.

  • Ears: The ears are flattened with absent retroauricular folds. The pinnae may be small and rudimentary or absent. The external auditory canal may be obstructed by scale.

  • Lips: Severe traction on the lips causes eclabium and a fixed, open mouth. This may result in feeding difficulties.

  • Nose: Nasal hypoplasia and eroded nasal alae may occur. The nares can be obstructed.

  • Extremities: The limbs are encased in the thick, hyperkeratotic skin, resulting in flexion contractures of the arms, the legs, and the digits. Limb mobility is poor to absent. Circumferential constriction of a limb or digit can occur, leading to distal swelling, ischemic necrosis and autoamputation. Hypoplasia of the fingers, toes, and fingernails is reported. Polydactyly is described.

  • Temperature dysregulation: Thickened skin prevents normal sweat gland function and heat loss. The infant is heat intolerant and can become hyperthermic.

  • Respiratory status: Restriction of chest-wall expansion can result in respiratory distress, hypoventilation, and respiratory failure.

  • Hydration status: Dehydration from excess water loss can cause tachycardia and poor urine output.

  • Central nervous system: Metabolic abnormalities can cause seizures. CNS depression can be a sign of sepsis or hypoxia. Hyperkeratosis may restrict spontaneous movements, making neurologic assessment difficult.

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Complications

Complications in the neonatal period include the following:

  • Sepsis
  • Respiratory compromise
  • Dehydration, hypernatremia, hypocalcemia, hypoglycemia
  • Hyperthermia
  • Feeding difficulty
  • Nasal obstruction
  • Conjunctivitis, keratitis
  • Limb or digital constriction, ischemia

Infants who survive the newborn period have a lifelong, severe ichthyosiform erythroderma.

Recurrent skin infections may continue after the newborn period.

Contractures and painful fissuring of the hands and the feet may occur. Rajpopat et al reported palmoplantar keratoderma in 52% of survivors, causing pain and delay in walking. [13]

Pruritus was reported in 44% of patients, heat and cold intolerance was found in 36%, reduced sweating was found in 28%, and photosensitivity and pigmented macules were found in one patient each. [13] Poor hair growth and nail deformities were common. Hearing impairment may result from obstruction of the ear canals by skin debris.

Developmental delay and normal intellectual development are described. Rajpopat et al reported that most school-aged survivors were attending mainstream schools, although many needed additional help. [13]

Growth must be closely monitored. Short stature is common and weight below average. Nutritional rickets due to vitamin D deficiency is reported. [13] This is likely due to defective vitamin D synthesis in the abnormal skin, calcium loss, and reduced exposure to sunlight.

Inflammatory arthritis and permanent contractures may occur. [13] Hypothyroidism and juvenile idiopathic arthritis have been reported in a patient with harlequin ichthyosis. [15]

Harlequin ichthyosis can be associated with ostium secundum atrial septal defect. A 2019 case series reported that echocardiography revealed this cardiac abnormality in harlequin ichthyosis patients. [16] However, the ostium secundum atrial septal defect was noted to close spontaneously. These need to be monitored over time.

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