Herein we present a case of Gaucher disease (GD) type 2 in a neonate presenting with collodion membrane in addition to blueberry muffin lesions. [ncbi.nlm.nih.gov]

Type 2 Gaucher Disease can present with acuities when it presents at birth, but hepatosplenomegaly is common in all forms of type 2 Gaucher Disease. [metabolic.diseases.spot-early-signs.org]

The case presented in this study has demonstrated that C16S in its homozygous state results in the most severe hydrops presentation of Gaucher's disease. [doi.org]

Traditionally, the clinical presentation is considered to be stereotypic; however it can range from hydrops fetalis to the collodion baby phenotype to infants presenting after 6 months of life. [epostersonline.com]

• Splenomegaly

  (see Splenomegaly, [[Splenomegaly]]) Epidemiology : most common presenting manifestation Splenic Infarction Epidemiology : occurs rarely Clinical Abdominal Pain (see Abdominal Pain, [[Abdominal Pain]]) Neurologic Manifestations Parkinson’s Disease (see [mdnxs.com]

  Microcephaly ; Micrognathia ; Microtia ; Narrow mouth ; Nonimmune hydrops fetalis ; Open mouth ; Opisthotonus ; Petechiae ; Polyhydramnios ; Premature birth ; Progressive neurologic deterioration ; Respiratory distress ; Retrognathia ; Seizures ; Short nose ; Splenomegaly [mousephenotype.org]

  The clinical features include weakness, dyspnea, refractory anemia, splenomegaly, periostitis and pains in the bones. Myelofibrosis is observed equally often in the two sexes and has no predilection for [jamanetwork.com]

  […] type IIIa Gaucher disease, type IIIb Gaucher disease, type IIIc Gaucher disease, Norrbottnian type Gaucher disease, perinatal lethal Gaucher disease, collodion type Gaucher disease, juvenile and adult, cerebral GD cerebroside lipidosis syndrome Gaucher splenomegaly [flybase.org]

  Splenomegaly is commonly seen in GD patients and the spleen can be significantly enlarged. Massive splenomegaly may result in abdominal discomfort or fullness. Hepatomegaly is commonly seen, although cirrhosis or liver failure is rare. [dermatologyadvisor.com]

• Receding Chin

  chin Receding lower jaw Weak chin Weak jaw [ more ] 0000278 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Thoracic hypoplasia Small chest Small thorax [ more ] 0005257 Triangular [rarediseases.info.nih.gov]

• Cardiomegaly

  […] cells were detected in bronchoalveolar lavage fluid (BALF), and suggest that this may be a useful tool for early diagnosis.Case reportAt 36 weeks of gestation, a male infant weighing 2731 g was delivered by cesarean section because of hydrops fetalis, cardiomegaly [deepdyve.com]

  Synonyms GAUCHER DISEASE, COLLODION TYPE Classification genetic, metabolism, skin, sucking/swallowing Phenotypes Akinesia ; Anemia ; Anteverted nares ; Apathy ; Apnea ; Arthrogryposis multiplex congenita ; Ascites ; Autosomal recessive inheritance ; Cardiomegaly [mousephenotype.org]

  […] available through HPO Akinesia 0002304 Anemia Low number of red blood cells or hemoglobin 0001903 Apathy Lack of feeling, emotion, interest 0000741 Apnea 0002104 Ascites Accumulation of fluid in the abdomen 0001541 Autosomal recessive inheritance 0000007 Cardiomegaly [rarediseases.info.nih.gov]

• Low Set Ears

  Depressed nasal bridge ; Desquamation of skin soon after birth ; Dysphagia ; Everted lower lip vermilion ; Everted upper lip vermilion ; Hepatic failure ; Hepatomegaly ; Hyperkeratosis ; Hypertelorism ; Hypokinesia ; Intrauterine growth retardation ; Low-set [mousephenotype.org]

  ears Low set ears Lowset ears [ more ] 0000369 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Micrognathia Little lower jaw Small jaw [rarediseases.info.nih.gov]

• Low-Set Posteriorly Rotated Ears

  […] liver 0002240 High palate Elevated palate Increased palatal height [ more ] 0000218 Hypertonia 0001276 Low-set, posteriorly rotated ears 0000368 Muscular hypotonia Low or weak muscle tone 0001252 Seizures Seizure 0001250 Splenomegaly Increased spleen [rarediseases.info.nih.gov]

• Petechiae

  […] vermilion ; Hepatic failure ; Hepatomegaly ; Hyperkeratosis ; Hypertelorism ; Hypokinesia ; Intrauterine growth retardation ; Low-set ears ; Microcephaly ; Micrognathia ; Microtia ; Narrow mouth ; Nonimmune hydrops fetalis ; Open mouth ; Opisthotonus ; Petechiae [mousephenotype.org]

  0000347 Microtia Small ears Underdeveloped ears [ more ] 0008551 Narrow mouth Small mouth 0000160 Nonimmune hydrops fetalis 0001790 Open mouth Gaped jawed appearance Gaped mouthed appearance Slack jawed appearance [ more ] 0000194 Opisthotonus 0002179 Petechiae [rarediseases.info.nih.gov]

• Eczema

  […] decubitus ulcers, varicose ulcers and dehiscent wounds; and Kerafoam[TM] Emollient Foam, indicated for softening, smoothing and removing rough scaling ictiosis congenita skin in conditions such as xerosis, ichthyosisskin cracks and fissures, dermatitis, eczema [pdffilesofjennifer.online]

• Hypertelorism

  […] beta-glucocerebrosidase protein and activity ; Decreased fetal movement ; Depressed nasal bridge ; Desquamation of skin soon after birth ; Dysphagia ; Everted lower lip vermilion ; Everted upper lip vermilion ; Hepatic failure ; Hepatomegaly ; Hyperkeratosis ; Hypertelorism [mousephenotype.org]

  […] lip vermilion Drooping lower lip Outward turned lower lip [ more ] 0000232 Everted upper lip vermilion Outward turned upper lip 0010803 Hepatic failure Liver failure 0001399 Hepatosplenomegaly Enlarged liver and spleen 0001433 Hyperkeratosis 0000962 Hypertelorism [rarediseases.info.nih.gov]

  […] pneumonia Feeding difficulties Paraplegia Acrania Apnea Esotropia Babinski sign Aspiration Cardiac arrest Protuberant abdomen Acute encephalopathy Bulbar signs Abnormal pattern of respiration Abnormality of the periventricular white matter Frequent falls Hypertelorism [mendelian.co]

• Short Nose

  Microcephaly ; Micrognathia ; Microtia ; Narrow mouth ; Nonimmune hydrops fetalis ; Open mouth ; Opisthotonus ; Petechiae ; Polyhydramnios ; Premature birth ; Progressive neurologic deterioration ; Respiratory distress ; Retrognathia ; Seizures ; Short [mousephenotype.org]

  nose Decreased length of nose Shortened nose [ more ] 0003196 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Thoracic hypoplasia Small chest Small thorax [ more ] 0005257 Triangular face Face with broad temples and narrow chin Triangular facial [rarediseases.info.nih.gov]

• Depressed Nasal Bridge

  nasal bridge ; Desquamation of skin soon after birth ; Dysphagia ; Everted lower lip vermilion ; Everted upper lip vermilion ; Hepatic failure ; Hepatomegaly ; Hyperkeratosis ; Hypertelorism ; Hypokinesia ; Intrauterine growth retardation ; Low-set ears [mousephenotype.org]

  […] tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] [rarediseases.info.nih.gov]

• Low Nasal Root

  nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Ectropion Eyelid turned out 0000656 Fetal akinesia sequence 0001989 Hepatomegaly Enlarged [rarediseases.info.nih.gov]

See Workup for more detail. [emedicine.medscape.com]

Management and treatment There is no treatment for this severe form of the disease. Last updated: 2/1/2012 This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. [rarediseases.info.nih.gov]

[…] dead surface skin cells and is a treatment for several types of wart. [medicine.academic.ru]

Treatment Options SYMPTOMATIC TREATMENT Joint replacement may be required to address joint damage or limited range of motion. Analgesics may be used for pain management. [dermatologyadvisor.com]

Food and Drug Administration (FDA) in 1991 for the treatment of Gaucher disease type 1. It was the first ERT proven effective for the treatment of Gaucher disease type 1. [rarediseases.org]

The data generated will be essential in the design of any future interventional protocols, helping to identify goals of treatment and milestones to determine efficacy. [epostersonline.com]

Prognosis - Lamellar ichthyosis Not supplied. Treatment - Lamellar ichthyosis Resources - Lamellar ichthyosis Not supplied. [checkorphan.org]

University Hospital, Muenster, and d Department of Dermatology, Electron Microscopy Laboratory, University Hospital, Heidelberg, Germany E s t a b l i s h e d Fa c t s • Type II Gaucher disease (acute neuronopathic form) is a rare neonatal disease with poor prognosis [yumpu.com]

The prognosis of type 3 Gaucher disease depends on the severity of disease and age of onset of therapy. [emedicine.medscape.com]

Importantly, approaches to presymptomatic or prospective intervention therapies and/or use of therapies with significant risk require accurate risk-benefit analyses based on the prognosis for individual patients. [ommbid.mhmedical.com]

Such distinctions very early in the Gaucher Disease course are clinically very challenging, but are of great importance in eventual prognosis since they impact the choices of therapy. [childrensgaucher.org]

The clinical presentation and etiology of GD and the differential diagnoses for collodion membrane and blueberry muffin lesions are briefly reviewed. © 2015 Wiley Periodicals, Inc. [ncbi.nlm.nih.gov]

The clinical presentation and etiology of GD and the differential diagnoses for collodion membrane and blueberry muffin lesions are briefly reviewed. [sparrho.com]

Death usually occurs in utero or shortly after birth ( Etiology Fetal Gaucher disease is a lysosomal storage disease caused by a mutation in the GBA gene (1q21) that encodes for the lysosomal enzyme, glucocerebrosidase. [rarediseases.info.nih.gov]

Etiology GD is an autosomal recessive disorder caused by mutations in the GBA gene. [dermatologyadvisor.com]

Gaucher disease: New development in treatment and etiology. World Journal of Gastroenterology, 14, 3968–3973. CrossRef PubMed PubMedCentral Google Scholar Huang, W. J., Zhang, X., & Chen, W. W. (2015). [link.springer.com]

Epidemiology Incidence : occurs in 1 in 75k births worldwide Increased incidence in Ashkenazi Jews Physiology Autosomal Recessive Lysosomal Storage Disease : beta-glucocerebrosidase (lysosomal B glucosidase) deficiency with deposition of glucocerebrocides [mdnxs.com]

[…] deafness with susceptibility to aminoglycoside exposure Perrault syndrome Synonym(s): - Pallidopyramidal syndrome Classification (Orphanet): - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological [csbg.cnb.csic.es]

Epidemiology It is very rare with an incidence of less than 5% of GD cases. Clinical description This form is particularly severe. [rarediseases.info.nih.gov]

Epidemiology Frequency United States Type 1 Gaucher disease more common among Jewish people of Eastern European origin; the carrier frequency in these individuals is approximately 1 per 15 population, whereas the disease frequency is 1 per 855 population [emedicine.medscape.com]

Futerman Tags: Research Letter Source Type: research Epidemiology, environmental risk factors and genetics of Parkinson's disease. [medworm.com]

Pathophysiology Clinical manifestations include hepatosplenomegaly, anemia, thrombocytopenia, and bone disease. Types 2 and 3 GD also exhibit neurologic involvement. [dermatologyadvisor.com]

Pathophysiology Ichthyosis vulgaris is characterized by onset in early childhood, usually between age 3 and 12 months, with fine scales and varying degrees of dryness of the skin. Oliver Hart from Charleston, South Carolina:. [getpdffromjax.club]

Pathophysiology Glucosylceramide, the accumulated glycolipid, is primarily derived from the phagocytosis and degradation of senescent leukocytes and erythrocyte membranes. [emedicine.medscape.com]

The pathophysiology of delirium is still poorly understood although several mechanisms have been proposed. [healthdocbox.com]

Skeletal complicationsof Gaucher disease: Pathophysiology, evaluation and treat-ment. Seminars in Hematology, 32(S1), 2027.Pastores, G. M., & Hughes, D. A. (2011). Gaucher disease.GeneReviews. Updated July 21, 2011. [docslide.com.br]

Moisturizers Prevention of overheating Eye drops (to prevent the eyes from becoming dried out) Systemic Retinoids (Isotretinoin and acitretin are very effective, but careful monitoring for toxicity is required. [ipfs.io]

Moisturizers Prevention of overheating Eye drops (to prevent the eyes from becoming dried out) Systemic Retinoids ( isotretinoin and acitretin are very effective, but careful monitoring for toxicity is required. [en.wikipedia.org]

Collaborative Meta-Analysis of Randomised Trials of Antiplatelet Therapy for Prevention of Death, Myocardial Infarction, and Stroke in High Risk Patients. ‎ [books.google.es]

Symptoms - Lamellar ichthyosis Causes - Lamellar ichthyosis Prevention - Lamellar ichthyosis Not supplied. Diagnosis - Lamellar ichthyosis Not supplied. Prognosis - Lamellar ichthyosis Not supplied. [checkorphan.org]

A Randomized Study of the Prevention of Sudden Death in Patients With Coronary Artery Disease AJAD - Characterization of Verbal Operants in Patients With Alzheimers Disease Analysis of the Glucocerebrosidase (GBA) and GTP Cyclohydrolase-1 (GCH1) genes [documents.mx]