Sjögren–Larsson syndrome

Not to be confused with Sjögren's syndrome, an autoimmune disorder which can cause many problems including dry skin.

Sjögren-Larsson syndrome
Classification and external resources
Specialty	medical genetics
ICD-10	Q87.1 (ILDS Q87.136)
ICD-9-CM	757.1 (CDC/BPA 757.120)
OMIM	270200
DiseasesDB	30051
eMedicine	derm/706
MeSH	D016111
Orphanet	816

Sjögren–Larsson syndrome (SLS) is an autosomal recessive form of ichthyosis apparent at birth.^[1]^:485^[2]^:564^[3] Sjögren–Larsson syndrome is a rare autosomal, recessive, neurocutaneous disease. This disease can be identified by a triad of medical disorders. The first is ichthyosis, which is a buildup of skin to form a scale-like covering that causes dry skin and other problems. The second identifier is spastic paraplegia which is characterized by leg spasms. The final identifier is intellectual delay. The gene of SLS is found on chromosome 17. In order for a child to receive SLS both parents must be carriers of the SLS gene. If they are carriers their child has a ¼ chance of getting the disease. In 1957 Sjogren and Larsson proposed that the Swedes with the disease all descended from a common ancestor 600 years ago. Today only 30-40 persons in Sweden have this disease.^[4]

Causes

It is associated with a deficiency of the enzyme "fatty aldehyde dehydrogenase". At least 11 distinct mutations have been identified.^[5]

Genetics

This condition is inherited in an autosomal recessive pattern.

Pathological features

Dry and scaly skin similar to all other ichtyosiforms (types of ichthyosis).
Neurological problems - this can often cause mild paralysis in the legs
Mild to moderate intellectual disability.

Eponym

It was characterized by Torsten Sjögren and Tage Konrad Leopold Larsson (1905–1998), a Swedish medical statistician.^[6]^[7]

It should not be confused with Sjögren's syndrome, which is a distinct condition named after a different person (Henrik Sjögren).

References

↑ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
↑ http://www.socialstyrelsen.se/ovanligadiagnoser/sjogren-larssonssyndrom
↑ Sillén A, Anton-Lamprecht I, Braun-Quentin C, et al. (1998). "Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome". Hum. Mutat. 12 (6): 377–84. doi:10.1002/(SICI)1098-1004(1998)12:6<377::AID-HUMU3>3.0.CO;2-I. PMID 9829906.
↑ synd/1678 at Who Named It?
↑ SJOGREN T, LARSSON T (1957). "Oligophrenia in combination with congenital ichthyosis and spastic disorders; a clinical and genetic study". Acta Psychiatr Neurol Scand Suppl. 113: 1–112. PMID 13457946.

Bibliography

Sjögren, K. G. Torsten/Larsson, Tage K.: Oligophrenie in combination with congenital ichtyosis and spastic disorders. A clinical and genetic study, in: Acta psychiatrica et neurologica scandinavica, Copenhagen, 1957, 32, supplement 113, p. 9-105.

Inborn error of lipid metabolism: fatty-acid metabolism disorders (E71.3, 277.81–277.85)

Synthesis

Biotinidase deficiency

Degradation

Acyl transport

Carnitine
- Primary
- I
- II
- -acylcarnitine
Adrenoleukodystrophy

Beta oxidation

General	Acyl CoA dehydrogenase Short-chain Medium-chain Long-chain 3-hydroxy Very long-chain Mitochondrial trifunctional protein deficiency: Acute fatty liver of pregnancy

Unsaturated	2,4 Dienoyl-CoA reductase deficiency

Odd chain	Propionic acidemia

Other	3-hydroxyacyl-coenzyme A dehydrogenase deficiency

To acetyl-CoA

Malonic aciduria

Aldehyde

Sjögren–Larsson syndrome

Congenital malformations and deformations of integument / skin disease (Q80–Q82, 757.0–757.3)

Genodermatosis

Congenital ichthyosis/
erythrokeratodermia

AD	Ichthyosis vulgaris

AR	Congenital ichthyosiform erythroderma: Epidermolytic hyperkeratosis Lamellar ichthyosis Harlequin type ichthyosis Netherton syndrome Zunich–Kaye syndrome Sjögren–Larsson syndrome

XR	X-linked ichthyosis

Ungrouped	Ichthyosis bullosa of Siemens Ichthyosis follicularis Ichthyosis prematurity syndrome Ichthyosis–sclerosing cholangitis syndrome Nonbullous congenital ichthyosiform erythroderma Ichthyosis linearis circumflexa Ichthyosis hystrix

EB
and related

EBS
- EBS-K
- EBS-WC
- EBS-DM
- EBS-OG
- EBS-MD
- EBS-MP

DEB
- DDEB
- RDEB

Ectodermal dysplasia

Elastic/Connective

Hyperkeratosis/
keratinopathy

PPK	diffuse: Diffuse epidermolytic palmoplantar keratoderma Diffuse nonepidermolytic palmoplantar keratoderma Palmoplantar keratoderma of Sybert Mal de Meleda syndromic connexin Bart–Pumphrey syndrome Clouston's hidrotic ectodermal dysplasia Vohwinkel syndrome Corneodermatoosseous syndrome plakoglobin Naxos syndrome Scleroatrophic syndrome of Huriez Olmsted syndrome Cathepsin C Papillon–Lefèvre syndrome Haim–Munk syndrome Camisa disease focal: Focal palmoplantar keratoderma with oral mucosal hyperkeratosis Focal palmoplantar and gingival keratosis Howel–Evans syndrome Pachyonychia congenita Pachyonychia congenita type I Pachyonychia congenita type II Striate palmoplantar keratoderma Tyrosinemia type II punctate: Acrokeratoelastoidosis of Costa Focal acral hyperkeratosis Keratosis punctata palmaris et plantaris Keratosis punctata of the palmar creases Schöpf–Schulz–Passarge syndrome Porokeratosis plantaris discreta Spiny keratoderma ungrouped: Palmoplantar keratoderma and spastic paraplegia desmoplakin Carvajal syndrome connexin Erythrokeratodermia variabilis HID/KID

Other	Meleda disease Keratosis pilaris ATP2A2 Darier's disease Dyskeratosis congenita Lelis syndrome Dyskeratosis congenita Keratolytic winter erythema Keratosis follicularis spinulosa decalvans Keratosis linearis with ichthyosis congenital and sclerosing keratoderma syndrome Keratosis pilaris atrophicans faciei Keratosis pilaris

Other

see also Template:Congenital malformations and deformations of skin appendages, Template:Phakomatoses, Template:Pigmentation disorders, Template:DNA replication and repair-deficiency disorder

Developmental
anomalies

Midline	Dermoid cyst Encephalocele Nasal glioma PHACE association Sinus pericranii

Nevus	Capillary hemangioma Port-wine stain Nevus flammeus nuchae

Other/ungrouped	Aplasia cutis congenita Amniotic band syndrome Branchial cyst Cavernous venous malformation Accessory nail of the fifth toe Bronchogenic cyst Congenital cartilaginous rest of the neck Congenital hypertrophy of the lateral fold of the hallux Congenital lip pit Congenital malformations of the dermatoglyphs Congenital preauricular fistula Congenital smooth muscle hamartoma Cystic lymphatic malformation Median raphe cyst Melanotic neuroectodermal tumor of infancy Mongolian spot Nasolacrimal duct cyst Omphalomesenteric duct cyst Poland anomaly Rapidly involuting congenital hemangioma Rosenthal–Kloepfer syndrome Skin dimple Superficial lymphatic malformation Thyroglossal duct cyst Verrucous vascular malformation Birthmark

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