Dermatologic Manifestations of Sjogren-Larsson Syndrome Clinical Presentation

Updated: Apr 16, 2021
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: William D James, MD  more...
  • Print
Presentation

History

Most Sjögren-Larsson syndrome (SLS) patients are born preterm and have erythema at birth. [24] The diagnosis of Sjögren-Larsson syndrome is almost always delayed because only cutaneous symptoms (eg, scaling, hyperkeratosis) are usually present at birth.

A family history of siblings affected by Sjögren-Larsson syndrome or a consanguineous marriage of the parents is sometimes present.

Pruritus is a prominent feature that is not found in other types of ichthyosis.

Photophobia is a common complaint.

The skin gradually becomes thickened and scaly in the first year of life. Desquamation of the palms and the soles is observed in some cases. Later, a wrinkled brownish yellow hyperkeratosis gradually develops, with a predilection on the main flexor folds of the extremities. Ichthyosis is seen at birth and worsens with time.

At first, the neurologic signs are nonspecific (eg, mental retardation, spasticity); however, severe neuromotor and mental developmental delay is usually obvious by the time the patient is aged 1-2 years. It gradually progresses to reach a plateau phase. Neck posturing seems to be apparent by the time the patient is aged 3 years. Involuntary jaw opening while eating is usually observed by the time the patient is aged 6 years. Seizures usually develop later in childhood.

Next:

Physical Examination

The key triad of symptoms for Sjögren-Larsson syndrome (SLS) includes nonbullous congenital ichthyosiform erythroderma, spastic diplegia or quadriplegia, and mental retardation. An additional group of signs comprises other dermatologic symptoms, ophthalmologic signs, speech defects, epilepsy, dental problems, and skeletal abnormalities.

Skin involvement (type of lesions)

Ichthyosis is generalized, with the trunk, the flexures, and the dorsal aspects of the hands and the feet most severely affected. It may present as fine, furfuraceous (dandrufflike) scaling; lamellar-type hyperkeratosis with thin scales; or nonscaly thickening in the stratum corneum.

A yellow discoloration may occur with extensive thickening of the skin and is mostly pronounced around the umbilicus and the main flexures. The face is mostly spared. Hair and nails are usually normal. Dermatoglyphic alterations (eg, simian creases, palmar hyperlinearity) may be present.

Dental findings

Enamel hypoplasia may be present.

Skeletal findings  [25]

Skeletal abnormalities (eg, short stature, kyphoscoliosis) may be observed.

Neurologic signs  [26, 27]

Spasticity may be apparent before age 3 years and is more severe in the lower limbs than in other parts of the body. Mental retardation is moderate to severe and mostly progressive (intelligence quotient [IQ] < 50 in about 70% of patients). Seizures (epilepsy) occur in about 30-50% of patients with Sjögren-Larsson syndrome. Delayed or impaired speech may be present. Hyperreflexia (tendon reflexes) is increased, and a positive bilateral Babinski reflex may occur. Joint hyperextensibility may be observed.

Ophthalmologic signs

Glistening dots on the macular region of the retina are pathognomonic for Sjögren-Larsson syndrome. Other ophthalmologic findings include subnormal visual acuity, conjunctivitis, blepharitis, punctate erosions of the cornea, fundus autoreflectance changes, and deficiency of foveal macular pigment. [28, 29]

Previous