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Neuroectodermal melanolysosomal disease

MedGen UID:
348553
Concept ID:
C1860157
Disease or Syndrome
Synonym: ELEJALDE NEUROECTODERMAL MELANOLYSOSOMAL SYNDROME
SNOMED CT: Neuroectodermal melanolysosomal disease (724091002); Elejalde disease (724091002)
 
Monarch Initiative: MONDO:0009742
OMIM®: 256710
Orphanet: ORPHA33445

Definition

Elejalde neuroectodermal melanolysosomal syndrome is a rare autosomal recessive disorder characterized by silvery-gray hair and severe dysfunction of the central nervous system, present from infancy or early childhood and consisting of severe hypotonia, seizures, and impaired intellectual development. Skin may be hypopigmented with bronzing after sun exposure. Microscopy of hair reveals large granules of melanin unevenly distributed in the hair shaft. Abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblasts may be present (Elejalde et al., 1979; Duran-McKinster et al., 1999). It has been proposed that, in at least some cases, Elejalde neuroectodermal melanolysosomal syndrome and Griscelli syndrome type 1 (GS1; 214450) represent the same entity; see below. GS1 is caused by mutation in the MYO5A gene (160777). [from OMIM]

Clinical features

From HPO
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Hypopigmentation of the skin
MedGen UID:
102477
Concept ID:
C0162835
Disease or Syndrome
A reduction of skin color related to a decrease in melanin production and deposition.
Silver-gray hair
MedGen UID:
322949
Concept ID:
C1836576
Finding
Hypopigmented hair that appears silver-gray.
Accumulation of melanosomes in melanocytes
MedGen UID:
375180
Concept ID:
C1843389
Finding
Melanin pigment aggregation in hair shafts
MedGen UID:
375181
Concept ID:
C1843390
Finding
Exotropia
MedGen UID:
4613
Concept ID:
C0015310
Disease or Syndrome
A form of strabismus with one or both eyes deviated outward.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNeuroectodermal melanolysosomal disease
Follow this link to review classifications for Neuroectodermal melanolysosomal disease in Orphanet.

Suggested Reading

Recent clinical studies

Diagnosis

Mohammadzadeh Shanehsaz S, Rezazadeh A, Dandashli A
Dermatol Online J 2015 Feb 22;21(3) PMID: 25780981
Duran-McKinster C, Rodriguez-Jurado R, Ridaura C, de la Luz Orozco-Covarrubias M, Tamayo L, Ruiz-Maldonando R
Arch Dermatol 1999 Feb;135(2):182-6. doi: 10.1001/archderm.135.2.182. PMID: 10052404

Clinical prediction guides

Mohammadzadeh Shanehsaz S, Rezazadeh A, Dandashli A
Dermatol Online J 2015 Feb 22;21(3) PMID: 25780981
Duran-McKinster C, Rodriguez-Jurado R, Ridaura C, de la Luz Orozco-Covarrubias M, Tamayo L, Ruiz-Maldonando R
Arch Dermatol 1999 Feb;135(2):182-6. doi: 10.1001/archderm.135.2.182. PMID: 10052404

Supplemental Content

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