Encephalocraniocutaneous lipomatosis

A rare, genetic skin disease characterized by the ocular, cutaneous, and central nervous system anomalies. Typical clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, and central nervous system lipomas, leading sometimes to seizures, spasticity, and intellectual disability. Nevus psiloliparus, focal dermal hypo- or aplasia, eyelid skin tags, colobomas, abnormal intracranial vessels, hemispheric atrophy, porencephalic cyst, and hydrocephalus have also been associated.



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Narrow down the case reports



Total: 72 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(64.1%)		 28553398
(5437771)
 Partial Encephalocraniocutaneous Lipomatosis Syndrome.
Velusamy S, Bharathi SS, Krishnakumar B.
J Pediatr Neurosci. 2017;12(1):102-104.
Limbal dermoid Hemiatrophy
2
(59.8%)		 10766980
 Antenatal and postnatal findings in encephalocraniocutaneous lipomatosis.
Nowaczyk MJ, Mernagh JR, Bourgeois JM, Thompson PJ, Jurriaans E.
Am J Med Genet. 2000;91(4):261-6.
Cranial asymmetry Hemiatrophy
rs779707422
Brain Diseases Females Fetal Diseases Homo sapiens Infant, Newborn Lipomatosis Magnetic Resonance Imaging Male Neurocutaneous Syndromes Postnatal Care Pregnancy Ultrasonography X-Ray Computed Tomography
3
(48.5%)		 24881613
(4065518)
 Encephalocraniocutaneous lipomatosis: a case report and review of the literature.
Chandravanshi SL.
Indian J Ophthalmol. 2014;62(5):622-7.
Upper eyelid coloboma Lipoma
Differential Diagnosis Females Homo sapiens Infant, Newborn Lipomatosis Neurocutaneous Syndromes Ultrasonography, Doppler, Transcranial X-Ray Computed Tomography
4
(46.3%)		 3605190
 Severe proteus syndrome in an 18-month-old boy.
Malamitsi-Puchner A, Kitsiou S, Bartsocas CS.
Am J Med Genet. 1987;27(1):119-25.
Macrocephaly Hemihypertrophy
Bone Diseases Brain Neoplasms Growth Disorders Hamartoma Syndrome, Multiple Homo sapiens Infant Lipomatosis Male Neoplasms, Multiple Primary Pigmentation Disorders
5
(45.7%)		 11115042
 Encephalocraniocutaneous lipomatosis (Fishman syndrome): a rare neurocutaneous syndrome.
Amor DJ, Kornberg AJ, Smith LJ.
J Paediatr Child Health. 2000;36(6):603-5.
Seizure Hemiatrophy
Brain Calcinosis Dermoid Cyst Homo sapiens Infant Lipomatosis Magnetic Resonance Imaging Male Seizures Syndrome
5
(45.7%)		 3611632
 Encephalocraniocutaneous lipomatosis.
Fishman MA.
J Child Neurol. 1987;2(3):186-93.
Hemiatrophy
Brain Neoplasms Cerebral Angiography Eye Neoplasms Facial Neoplasms Females Homo sapiens Infant Lipomatosis Male Sclera Skin Neoplasms Syndrome X-Ray Computed Tomography
7
(40.3%)		 23723477
(3667289)
 Encephalocraniocutaneous Lipomatosis (Haberl and syndrome): A case report and review of literature.
Koti K, Bhimireddy V, Dandamudi S, Gunnamreddy R.
Indian J Dermatol. 2013;58(3):232-4.
Limbal dermoid Cerebral calcification
8
(39.6%)		 9009364
 Ocular manifestations in Delleman syndrome (Oculocerebrocutaneous syndrome, OCC-syndrome) and encephalocraniocutaneous lipomatosis (ECCL). Report of three cases.
Narbay G, Meire F, Verloes A, Casteels I, Devos E.
Bull Soc Belge Ophtalmol. 1996;261:65-70.
Microphthalmia Eyelid coloboma
Brain Child, Preschool Eye Abnormalities Face Homo sapiens Infant, Newborn Male Syndrome
9
(39.0%)		 29192135
(5723105)
 Encephalocraniocutaneous Lipomatosis: Haberland Syndrome.
Ozdogan S, Saymaz C, Yaltrk CK, Duzkalr HG, Kaya M, Demirel N, Duzkalr AH, Sarkaya B, Aktekin B.
Am J Case Rep. 2017;18:1271-1275.
Cranial asymmetry
Brain Child Homo sapiens Lipomatosis Male Neurocutaneous Syndromes Syndrome
9
(39.0%)		 12823300
 Encephalocraniocutaneous lipomatosis (Haberland syndrome) with bilateral cutaneous and visceral involvement.
Rubegni P, Risulo M, Sbano P, Buonocore G, Perrone S, Fimiani M.
Clin Exp Dermatol. 2003;28(4):387-90.
Cranial asymmetry
Biopsy Conjunctival Diseases Differential Diagnosis Eyelid Diseases Females Hamartoma Syndrome, Multiple Homo sapiens Infant, Newborn Lipomatosis Magnetic Resonance Imaging Neurocutaneous Syndromes Scalp Dermatoses
        

Phenotype(s) retrieved from Orphanet

    Total: 56

HPO ID Term Frequency
HP:0000488 Retinopathy Very frequent (99-80%)
HP:0000991 Xanthomatosis Very frequent (99-80%)
HP:0001012 Multiple lipomas Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001250 Seizures Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001482 Subcutaneous nodule Very frequent (99-80%)
HP:0001596 Alopecia Very frequent (99-80%)
HP:0009125 Lipodystrophy Very frequent (99-80%)
HP:0012759 Neurodevelopmental abnormality Very frequent (99-80%)
HP:0000256 Macrocephaly Frequent (79-30%)
HP:0000271 Abnormality of the face Frequent (79-30%)
HP:0000492 Abnormal eyelid morphology Frequent (79-30%)
HP:0000499 Abnormal eyelash morphology Frequent (79-30%)
HP:0000612 Iris coloboma Frequent (79-30%)
HP:0000614 Abnormal nasolacrimal system morphology Frequent (79-30%)
HP:0000708 Behavioral abnormality Frequent (79-30%)
HP:0000929 Abnormal skull morphology Frequent (79-30%)
HP:0001052 Nevus flammeus Frequent (79-30%)
HP:0001257 Spasticity Frequent (79-30%)
HP:0001274 Agenesis of corpus callosum Frequent (79-30%)
HP:0001276 Hypertonia Frequent (79-30%)
HP:0001331 Absent septum pellucidum Frequent (79-30%)
HP:0001704 Tricuspid valve prolapse Frequent (79-30%)
HP:0002059 Cerebral atrophy Frequent (79-30%)
HP:0002063 Rigidity Frequent (79-30%)
HP:0002092 Pulmonary arterial hypertension Frequent (79-30%)
HP:0002119 Ventriculomegaly Frequent (79-30%)
HP:0002120 Cerebral cortical atrophy Frequent (79-30%)
HP:0002167 Neurological speech impairment Frequent (79-30%)
HP:0002300 Mutism Frequent (79-30%)
HP:0002357 Dysphasia Frequent (79-30%)
HP:0002381 Aphasia Frequent (79-30%)
HP:0002514 Cerebral calcification Frequent (79-30%)
HP:0002797 Osteolysis Frequent (79-30%)
HP:0003552 Muscle stiffness Frequent (79-30%)
HP:0004493 Craniofacial hyperostosis Frequent (79-30%)
HP:0005306 Capillary hemangioma Frequent (79-30%)
HP:0007957 Corneal opacity Frequent (79-30%)
HP:0010529 Echolalia Frequent (79-30%)
HP:0010622 Neoplasm of the skeletal system Frequent (79-30%)
HP:0012062 Bone cyst Frequent (79-30%)
HP:0012157 Subcortical cerebral atrophy Frequent (79-30%)
HP:0100761 Visceral angiomatosis Frequent (79-30%)
HP:0000943 Dysostosis multiplex Occasional (29-5%)
HP:0001269 Hemiparesis Occasional (29-5%)
HP:0001650 Aortic valve stenosis Occasional (29-5%)
HP:0001679 Abnormal aortic morphology Occasional (29-5%)
HP:0001680 Coarctation of aorta Occasional (29-5%)
HP:0002301 Hemiplegia Occasional (29-5%)
HP:0002445 Tetraplegia Occasional (29-5%)
HP:0002652 Skeletal dysplasia Occasional (29-5%)
HP:0002763 Abnormal cartilage morphology Occasional (29-5%)
HP:0003470 Paralysis Occasional (29-5%)
HP:0011611 Interrupted aortic arch Occasional (29-5%)
HP:0040188 Osteochondrosis Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 20

HPO ID Term # of case reports
HP:0012032 Lipoma 10
HP:0003764 Nevus 6
HP:0002132 Porencephalic cyst 2
HP:0000267 Cranial asymmetry 1
HP:0000568 Microphthalmia 1
HP:0000612 Iris coloboma 1
HP:0000824 Growth hormone deficiency 1
HP:0001031 Subcutaneous lipoma 1
HP:0001140 Limbal dermoid 1
HP:0001528 Hemihypertrophy 1
HP:0002119 Ventriculomegaly 1
HP:0004322 Short stature 1
HP:0004947 Arteriovenous fistula 1
HP:0005115 Supraventricular arrhythmia 1
HP:0010817 Linear nevus sebaceous 1
HP:0011068 Odontoma 1
HP:0012062 Bone cyst 1
HP:0012424 Chorioretinitis 1
HP:0030426 Ossifying fibroma 1
HP:0100898 Connective tissue nevi 1


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
FGFR1 fibroblast growth factor receptor 1 2260
KRAS KRAS proto-oncogene, GTPase 3845