Schimmelpenning-Feuerstein-Mims Syndrome

Classification according to ICD-10
Q85.8	Other phacomatoses, not elsewhere classified
ICD-10 online (WHO version 2019)

The Schimmelpenning-Feuerstein-Mims syndrome is a rare congenital malformation syndrome of the skin and the nervous system and often of the eyes on a genetic basis belonging to neuroectodermal diseases .

Synonyms are: SFM syndrome; Mold penning syndrome; Nevus sebaceus Jadassohn; Linear nevus sebaceous syndrome; Neuroectodermal Syndrome (Feuerstein-Mims); Skin-eye-brain-heart syndrome; HAHH syndrome; English Nevus sebaceus syndrome; Solomon syndrome; Jadassohn Nevus Phakomatosis; JNP; Oorganoid Nevus Phakomatosis

The name designations refer to the first description from the year 1895 by the German dermatologist Josef Jadassohn , the German neurologist Gustav W. Schimmelpenning (Kiel) with his description from the year 1957 and the US-American doctors Richard C. Feuerstein and Leroy C. Mims (USA) based on a description from 1962.

Occurrence

The frequency is given as 1 in 1000 births.

root cause

The cause is not known. It is believed that somatic mutations with mosaic formation can be the cause. Possible dominant genes are:

NRAS gene on chromosome 1 at locus p13.2
HRAS gene on chromosome 11 at locus p15.5
KRAS gene on chromosome 12 at locus p12.1

Symptoms

Clinical criteria are:

Skin changes present at birth with numerous linearly arranged sebum gland avi, following the Blaschko lines, mainly on the head and neck , also on the oral mucosa

usually only one half of the body affected

Increasingly multiple nevus cell nevi with wart formations

partial alopecia of the scalp

Skull asymmetry with bony protrusions

Severe developmental disorder of the brain with intellectual disabilities , central paralysis ( spastic hemiparesis ) and epileptic seizures that begin in childhood

Eye changes such as microphthalmia , coloboma , dermoid cyst , corneal opacity , symblepharon , nystagmus , ptosis

In addition, meningioma , optic glioma , osteoclastoma and ameloblastoma , osteofibroma, osteomalacia , hemangiomatosis , cardiomyopathy , coarctation of the aorta , inguinal hernia or clitoral hypertrophy can occur.

The skin changes can be divided into the following stages:

Stage 1 (from birth to puberty ), small non-hairy lesions, regression possible
Stage 2 (during puberty), enlargement of the glands and warts
Stage 3 (in adulthood), possible malignant degeneration , usually to a basalioma

Differential diagnosis

The following are to be distinguished:

treatment

The nevi usually do not cause any symptoms; for cosmetic reasons and the possibility of malignant degeneration, surgical removal is indicated.

literature

E. Bahloul, I. Abid, A. Masmoudi, S. Makni, F. Kamoun, T. Boudawara, C. Triki, H. Turki: Le syndrome de Schimmelpenning-Feuerstein-Mims: à propos d'un cas. In: Archives de pediatrie: organe officiel de la Societe francaise de pediatrie. Vol. 22, No. 11, November 2015, pp. 1157–1162, doi: 10.1016 / j.arcped.2015.07.013 , PMID 26320679 .
C. Fritzsch, R. König, G. Jacobi: The Schimmelpenning-Feuerstein-Mims syndrome and its neurological symptoms. 6 own case reports and literature review. In: Clinical Pediatrics. Volume 207, No. 5, 1995 Sep-Oct, pp. 288-297, doi: 10.1055 / s-2008-1046554 , PMID 7500606 (review).

Individual evidence

↑ ^a ^b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
↑ ^a ^b ^c ^d ^e Linear nevus sebaceus syndrome. In: Orphanet (Rare Disease Database).
↑ ^a ^b Encyclopedia Dermatology
↑ J. Jadassohn: Remarks on the histology of the systematized nevi and on "sebum nevi" . In: Archive for Dermatology and Syphilis , Volume 88, 1895, pp. 355-394.
^ GW Schimmelpenning: Clinical contribution to the symptomatology of phakomatoses. In: Advances in X-Ray and Nuclear Medicine. Vol. 87, No. 6, December 1957, pp. 716-720, PMID 13512450 .
^ RC Feuerstein, LC Mims: Linear nevus sebaceus with convulsions and mental retardation. In: American journal of diseases of children , Volume 104, December 1962, pp. 675-679, PMID 13944982 .
^ Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic. In: Online Mendelian Inheritance in Man . (English)
↑ nevus syndrome comedonicus. In: Orphanet (Rare Disease Database).
↑ Phakomatosis pigmentokeratotica. In: Orphanet (Rare Disease Database).

Web links

Schimmelpenning-Feuerstein-Mims syndrome. In: Online Mendelian Inheritance in Man . (English).
Rare Diseases

[Leiber-1] Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .

[Orpha-2] Linear nevus sebaceus syndrome. In: Orphanet (Rare Disease Database).

[Altmeyer-3] Encyclopedia Dermatology

[4] J. Jadassohn: Remarks on the histology of the systematized nevi and on "sebum nevi" . In: Archive for Dermatology and Syphilis , Volume 88, 1895, pp. 355-394.

[5] GW Schimmelpenning: Clinical contribution to the symptomatology of phakomatoses. In: Advances in X-Ray and Nuclear Medicine. Vol. 87, No. 6, December 1957, pp. 716-720, PMID 13512450 .

[6] RC Feuerstein, LC Mims: Linear nevus sebaceus with convulsions and mental retardation. In: American journal of diseases of children , Volume 104, December 1962, pp. 675-679, PMID 13944982 .

[7] Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic. In: Online Mendelian Inheritance in Man . (English)

[8] nevus syndrome comedonicus. In: Orphanet (Rare Disease Database).

[9] Phakomatosis pigmentokeratotica. In: Orphanet (Rare Disease Database).