Unusual Dermatological and Neurological Presentation in a 10-Year-Old Boy
Year: 2025
Type: article
Study design: Case Report
Abstract: Quiz Q. A 10-year-old boy born from a consanguineous marriage presented with complaints of dryness and scaling all over the body since birth and delayed global development with progressive stiffness in both upper and lower limbs, which started during the 2nd year of his life. The child was severely stunted (below −5 SD) and wasted (below −4 SD) and had a history of tonic–clonic seizures. Cutaneous examination: Diffuse semi-adherent brown-to-greyish fine scaling over the trunk and upper limbs with predominantly flexural involvement with accentuated skin markings at the wrist and ankles were present. Pigmented lamellar-type ichthyotic scales were present over the lower limbs with exfoliation over palms and soles [Figure 1a and b]. Neurological examination revealed mental retardation (SQ = 20), increased tone in all four limbs, brisk deep tendon reflexes, and bilateral extensor plantar response suggestive of spastic quadriplegia.Figure 1: (a and b) Diffuse brownish-grey scale over the trunk and upper limb with predominantly flexural involvementHistopathological examination revealed squamous keratinized epithelium showing hyperkeratosis, acanthosis, and keratotic plugging with the presence of a granular layer [Figure 2]. Contrast-Enhanced Magnetic Resonance Imaging (CEMRI) brain showed T2 and fluid-attenuated inversion recovery (FLAIR) hyperintensities in bilateral periventricular white matter and centrum semiovale (L>R), which do not show restriction on diffusion-weighted imaging (DWI) [Figure 3a and b]. The rest of the cerebral parenchyma had a normal MRI appearance and signal intensity.Figure 2: (H and E; 10×) squamous keratinized epithelium showing hyperkeratosis, acanthosis, and keratotic plugging with the presence of a granular layerFigure 3: (a and b) T2 (red arrow) and FLAIR (blue arrow) images of MRI Brain – hyperintensities in bilateral periventricular and centrum semiovaleQuestion What is the diagnosis? Answer Sjogren Larrson Syndrome SLS is a rare autosomal recessive condition, which is characterized by congenital ichthyosis, spastic diplegia or tetraplegia (spastic pyramidal syndrome), and mental retardation. It has an incidence of 0.4 per 100,000 population and 200 cases reported worldwide till now.[1] The gene incriminated in SLS is ALDH3A2, which encodes the enzyme FALDH. The abnormal lipid composition of myelin accounts for neurological defects. FALDH was also implicated in Ω-oxidation of the eicosanoid LTβ4, the accumulation of which is mainly responsible for pruritis.[2] The clinical spectrum of ichthyosis in this disorder may range from fine scaling to generalized hyperkeratosis, which is most evident in the first 3 months. Thereafter a mild erythroderma may persist, which tends to clear by the age of 1 year, and various patterns of ichthyosis are seen in SLS such as furfuraceous, lamellar, and non-scaly hyperkeratotic thickening of stratum corneum. Collodion-like membranes are rarely seen. The most common sites affected are the side and back of the neck, lower abdomen, and flexures. The face is usually spared. Hair, nails, and the ability to sweat are generally normal.[3] The above-mentioned cutaneous findings were present in our patient. During the first 2–3 years of life, neurological signs and symptoms appear and consist of a delay in reaching motor milestones due to spastic diplegia or tetraplegia. They can be accompanied by speech defects and seizures (40% of the patients).[4] In our case, all three above-mentioned neurological findings were present. A characteristic ophthalmologic finding is the presence of glistening white dots in the macula of the retina, which is seen in one-third of the patients and first appears after several years of age.[5] Although this finding was not present in our patient. MRI shows diffuse symmetrical white matter hyperintensities on the T2W sequence, especially in the periventricular frontal, parietal lobes, corpus callosum, and corona radiata. Typically, subcortical white matter U fibers are spared.[4] A similar MRI finding was noted in our patient. Management of this disorder comprises a multidisciplinary approach of dermatologists, neurologists, ophthalmologists, orthopedics, and physiotherapists. Retinoid therapy has provided good therapeutic results in relieving scaling and disabling keratotic lichenification but is less successful in controlling itching.[5] Learning Points Diagnosis of SLS should be considered in a child presenting with congenital ichthyosis along with neurological features Detailed skin and physical examination are mandatory, as intensive physiotherapy and skill learning in early childhood may improve motor and social development in SLS. If SLS is suspected, ophthalmological evaluation is necessary. The presence of pathogenic biallelic mutations in the ALDH3A2 gene on genetic evaluation is diagnostic and should be done if facilities are available. Through our case, we want to highlight the importance of early recognition and management of this rare disease. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.
Source: Indian Journal of Dermatology
Authors: Vibhu Mendiratta, Damini Verma, Sneha Sonker
Institution: Lady Hardinge Medical College
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4407232905