Griscelli syndrome type 2 - Misplaced Pages

Medical condition

Griscelli syndrome type 2
Other names	Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome

This condition is inherited in an autosomal recessive manner

Griscelli syndrome type 2 (also known as "partial albinism with immunodeficiency") is a rare autosomal recessive syndrome characterized by variable cutenous albinism, silver colored metallic looking hair, frequent bacterial or viral infections, neutropenia, and thrombocytopenia.

Presentation

All types of Griscelli syndrome have distinctive skin and hair coloring.

Type 1 is associated with neurological abnormalities. These include delayed development, intellectual disability, seizures, hypotonia and eye abnormalities.

Type 2 - unlike type 1 - is not associated with primary neurological disease but is associated with an uncontrolled T lymphocyte expansion and macrophage activation syndrome. It is often associated with the hemophagocytic syndrome. This latter condition may be fatal in the absence of bone marrow transplantation.

Persons with type 3 have the typical light skin and hair coloring but are otherwise normal.

Genetics

There are three types of Griscelli syndrome.

Type 1 is associated with mutations in the MYO5A gene

Type 2 is associated with mutations in RAB27A gene.

Both these genes are located on the long arm of chromosome 15 (15q21).

Type 3 is associated with mutations in the MLPH gene.

All types are inherited in an autosomal recessive fashion.

Diagnosis

Differential diagnosis

This includes Chediak-Higashi syndrome and Elejalde syndrome (neuroectodermal melanolysosomal disease).

Treatment

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History

This syndrome was first described in 1978. In 2000 types 1 and 2 were distinguished.

References

James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
Griscelli C, Durandy, A, Guy-Grand D, Daguillard F, Herzog C, Prunieras M (1978) A syndrome associating partial albinism and immunodeficiency. Am J Med 65:691-702
Menasche G, Pastural E, Feldmann J, Certain S, Ersoy F, Dupuis S, Wulffraat N, Bianchi D, Fischer A, Le Deist F, de Saint Basile G (2000) Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nature Genet 25:173-176

External links

Classification	D ICD-10: E70.3 OMIM: 607624 MeSH: C537302
External resources	Orphanet: 79477

Pigmentation disorders/Dyschromia

Hypo-/
leucism

Loss of
melanocytes

Vitiligo	Quadrichrome vitiligo Vitiligo ponctué
Syndromic	Alezzandrini syndrome Vogt–Koyanagi–Harada syndrome
Melanocyte development	Piebaldism Waardenburg syndrome Tietz syndrome

Loss of melanin/
amelanism

Albinism	Oculocutaneous albinism Ocular albinism in humans
Melanosome transfer	Hermansky–Pudlak syndrome Chédiak–Higashi syndrome Griscelli syndrome Elejalde syndrome Griscelli syndrome type 2 Griscelli syndrome type 3
Other	Cross syndrome ABCD syndrome Albinism–deafness syndrome Idiopathic guttate hypomelanosis Phylloid hypomelanosis Progressive macular hypomelanosis

Leukoderma w/o
hypomelanosis

Ungrouped

Hyper-

Melanin/
Melanosis/
Melanism

Reticulated	Dermatopathia pigmentosa reticularis Pigmentatio reticularis faciei et colli Reticulate acropigmentation of Kitamura Reticular pigmented anomaly of the flexures Naegeli–Franceschetti–Jadassohn syndrome Dyskeratosis congenita X-linked reticulate pigmentary disorder Galli–Galli disease Revesz syndrome
Diffuse/ circumscribed	Lentigo/Lentiginosis: Lentigo simplex Liver spot Centrofacial lentiginosis Generalized lentiginosis Inherited patterned lentiginosis in black persons Ink spot lentigo Lentigo maligna Mucosal lentigines Partial unilateral lentiginosis PUVA lentigines Melasma Erythema dyschromicum perstans Lichen planus pigmentosus Café au lait spot Poikiloderma (Poikiloderma of Civatte Poikiloderma vasculare atrophicans) Riehl melanosis
Linear	Incontinentia pigmenti Scratch dermatitis Shiitake mushroom dermatitis
Other/ ungrouped	Acanthosis nigricans Freckle Familial progressive hyperpigmentation Pallister–Killian syndrome Periorbital hyperpigmentation Photoleukomelanodermatitis of Kobori Postinflammatory hyperpigmentation Transient neonatal pustular melanosis

Other
pigments

Iron	Hemochromatosis Iron metallic discoloration Pigmented purpuric dermatosis Schamberg disease Majocchi's disease Gougerot–Blum syndrome Doucas and Kapetanakis pigmented purpura/Eczematid-like purpura of Doucas and Kapetanakis Lichen aureus Angioma serpiginosum Hemosiderin hyperpigmentation
Other metals	Argyria Chrysiasis Arsenic poisoning Lead poisoning Titanium metallic discoloration
Other	Carotenosis Tar melanosis

Dyschromia

See also

Deficiencies of intracellular signaling peptides and proteins

GTP-binding protein regulators

GTPase-activating protein	Neurofibromatosis type I Watson syndrome Tuberous sclerosis
Guanine nucleotide exchange factor	Marinesco–Sjögren syndrome Aarskog–Scott syndrome Juvenile primary lateral sclerosis X-linked intellectual disability 1

G protein

Heterotrimeic

Monomeric

RAS: HRAS
- Costello syndrome
KRAS
- Noonan syndrome 3
- KRAS Cardiofaciocutaneous syndrome

RAB: RAB7
- Charcot–Marie–Tooth disease
RAB23
- Carpenter syndrome
RAB27
- Griscelli syndrome type 2

RHO: RAC2
- Neutrophil immunodeficiency syndrome

MAP kinase

Cardiofaciocutaneous syndrome

Other kinase/phosphatase

Tyrosine kinase	BTK X-linked agammaglobulinemia ZAP70 ZAP70 deficiency
Serine/threonine kinase	RPS6KA3 Coffin-Lowry syndrome CHEK2 Li–Fraumeni syndrome 2 IKBKG Incontinentia pigmenti STK11 Peutz–Jeghers syndrome DMPK Myotonic dystrophy 1 ATR Seckel syndrome 1 GRK1 Oguchi disease 2 WNK4/WNK1 Pseudohypoaldosteronism 2
Tyrosine phosphatase	PTEN Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease Cowden syndrome Proteus-like syndrome MTM1 X-linked myotubular myopathy PTPN11 Noonan syndrome 1 LEOPARD syndrome Metachondromatosis

Signal transducing adaptor proteins

Other

NF2
- Neurofibromatosis type II
Notch 3
- CADASIL
PRKAR1A
- Carney complex
PRKAG2
- Wolff–Parkinson–White syndrome
PRKCSH
- PRKCSH Polycystic liver disease
XIAP
- XIAP2

See also intracellular signaling peptides and proteins

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