Ichthyosis is always present, and liver steatosis with hepatomegaly, muscle weakness, ataxia, neurosensory hearing loss, subcapsular cataracts, nystagmus, strabismus, and mental retardation are sometimes present. [link.springer.com]

Occasionally diabetes or cardiovascular complications may be present. [mgz-muenchen.de]

Acronym NLSDM Synonyms Neutral lipid storage disease without ichthyosis Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Muscle weakness, ataxia, neurosensory hearing loss, eye findings (subcapsular cataracts, nystagmus and strabismus), and mental retardation may also be present. [genedx.com]

At birth, affected individuals usually present with dry, scaly skin. [diseaseinfosearch.org]

• Recurrent Upper Respiratory Infection

  Patient 4 was originally referred to our institution for evaluation of recurrent upper respiratory infections and childhood eczema. [documents.tips]

• Palpable Spleen

  At that time she had a cloudy left tympanic membrane, absence of the retinal red reflex, and a palpable spleen tip. [documents.tips]

• Regurgitation

  A grade II/ VI blowing diastolic murmur along the left sternal border consistent with aortic regurgitation had been present for several years and was asymptomatic., Pt.1, d l 3 a 1 2 6 s Pt.2 Pt.3 Pt.4 V Fig. 1. Pedigree. [documents.tips]

• Diastolic Murmur

  A grade II/ VI blowing diastolic murmur along the left sternal border consistent with aortic regurgitation had been present for several years and was asymptomatic., Pt.1, d l 3 a 1 2 6 s Pt.2 Pt.3 Pt.4 V Fig. 1. Pedigree. [documents.tips]

• Ejection Murmur

  A grade UVI systolic ejection murmur was noted on cardiac examination. He had a mild generalized ichthyosiform erythroderma, identical to that of his father and 2 sibs. [documents.tips]

• Esotropia

  Ophthalmologic examination showed a variable left esotropia of approximately 30 degrees and nuclear cataracts. [documents.tips]

• Lordosis

  Mild lordosis was evident, but no Gower sign was elicited. Gait was normal, b i t she had some difficulty with heel walking. Sensory system, cerebel- lar function and Jeep tendon reflexes were normal. [documents.tips]

• Eczema

  Other signs of ichthyosis are: Skin redness Blisters Peeling Itchiness Pain Lines on the palms of the hands and soles of the feet Tight skin that makes it hard to move Many people with ichthyosis also have eczema, a red, itchy rash. [webmd.com]

  Ichthyosis vulgaris The skin may appear normal at birth By the age of 5, the skin is dry with fine white scale Affects abdomen, arms and legs, sparing creases of arms and legs Causes keratosis pilaris Palms are excessively lined Associated with atopic eczema [dermnetnz.org]

  Patient 4 was originally referred to our institution for evaluation of recurrent upper respiratory infections and childhood eczema. [documents.tips]

• Hypoplastic Nails

  nails, sulfur matrix abnormal dentition, protein in hair brittle hair and nails Keratitis, Atypical Keratitis Neurosensory Occ: Mental Tight heel cords Unknown ichthyosis, ichthyosiform retardation deafness ervthroderma Ichthyosis and Neutral Lipid Storage [documents.tips]

• Lichenification

  He had mild erythroderma with prominence of skin markings (lichenification) and fine, whitish scales involving the entire body surface, including all of the flexures and the face. The facial skin was taut, but frank ectropion was absent. [documents.tips]

• Hearing Impairment

  Diseases related with Sensorineural hearing impairment and Myopathy In the following list you will find some of the most common rare diseases related to Sensorineural hearing impairment and Myopathy that can help you solving undiagnosed cases. [mendelian.co]

• Mild Facial Weakness

  Note unusual facial appearance with stabismus, ichthyosis, and mild facial weakness. 716 Williams et a1 Patient 4. The 3rd sib was a 5!h-year-old girl. [documents.tips]

• Gowers Sign

  Mild lordosis was evident, but no Gower sign was elicited. Gait was normal, b i t she had some difficulty with heel walking. Sensory system, cerebel- lar function and Jeep tendon reflexes were normal. [documents.tips]

Results of laboratory workup were as follows: IgG, 820 mg/dl; IgA, 65 mg/dl; IgM, 90 mg/dl; IgE, 50 I.U. units/ml; C3, 128 mg/dl; CH50, 24.6 U/ml; all normal for age. [documents.tips]

• Erythroblast

  Similar lipid vacuoles are seen in erythroblasts, reticulocytes, tissue macrophages and plasma cells, but not in mature red blood cells, and only rarely in peripheral blood lymphocytes [Slavin et al, 19751. [documents.tips]

• Abnormal ECG

  ECG N Glycosuria, Abnormal Retinal N ECG dysfunction Retinal N dysfunction N N Vacuolization of GI tract epithelia and endometrium enteropathy intestine epithelia N Gluten-sensitive N N Vacuolization of small Cataracts, Aortic insufficiency corneal opacity [documents.tips]

Rapidly consult with trusted authorities thanks to new expert-opinion treatment strategies and recommendations. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

The aim of this registry is obviously to know the natural history, investigate the pathophysiology, and eventually develop specific treatments of the diseases. [tgcv.org]

Treatment Please input treatment information here. You can also add sub-section(s) at will. Labs working on this disease Please input related labs here. References Please input treatment information here. [pediascape.org]

Treatments It can't be cured, but treatments can help you manage dry and scaly skin. Continued Rub cream, lotion, or ointment onto your skin every day to add moisture. [webmd.com]

In our cohort, the prognosis for patients with NLSD type I appeared to be more severe than that for patients with NLSD type M. [ojrd.biomedcentral.com]

(Neutral Lipid Storage Type) Dorfman Chanarin Syndrome Ichthyosiform Erythroderma with Leukocyte Vacuolation Ichthyotic Neutral Lipid Storage Disease Neutral Lipid Storage Disease Triglyceride Storage Disease Impaired Long-Chain Fatty Acid Oxidation Etiology [pediascape.org]

Ichthyosiform Syndromes: Comparison to Ichthyosis and Neutral Lipid Storage Syndrome Syndrome Ichthyosis Eye Deafness CNS Other Etiology Inheritance This syndrome Congenital Cataracts, retinal Neurosensory Occ: Ataxia, Lipid droplets in (?) [documents.tips]

From Epidemiology rare Pathology intracellular accumulation of triacylglycerol droplets in many types of tissues liver steatosis with hepatomegaly (variable) Genetics autosomal recessive associated with defects in ABHD5 gene Clinical-manifestations non [anvita.info]

Relevant External Links for PNPLA2 Genetic Association Database (GAD) PNPLA2 Human Genome Epidemiology (HuGE) Navigator PNPLA2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: PNPLA2 No data available for Genatlas for PNPLA2 Gene The ATGL [genecards.org]

The aim of this registry is obviously to know the natural history, investigate the pathophysiology, and eventually develop specific treatments of the diseases. [tgcv.org]