Reticular pigmented anomaly of the flexures

Reticular pigmented anomaly of the flexures
Classification and external resources
OMIM	179850

Reticular pigmented anomaly of the flexures (also known as "Dark dot disease," and "Dowling–Degos' disease") is a reticular pigmented anomaly of the flexures, an autosomal-dominant pigmentary disorder appearing in adolescence or adulthood, affecting the axillae, neck, and inframammary/sternal areas.^[1]:856 This condition is due to mutations in structural/desmosomal proteins found within stratified squamous epithelium.^[2]

It is associated with KRT5.^[3]

See also

• List of cutaneous conditions

References

1. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0. 
3. ^ Betz RC, Planko L, Eigelshoven S, et al. (March 2006). "Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease". Am. J. Hum. Genet. 78 (3): 510–9. doi:10.1086/500850. PMC 1380294. PMID 16465624. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)62390-8. 

Other

Fibrillin (Marfan syndrome, Weill-Marchesani syndrome, ) · Filamin (FG syndrome 2, Boomerang dysplasia, Larsen syndrome, Terminal osseous dysplasia with pigmentary defects)

IF

1/2	Keratinopathy (keratosis, keratoderma, hyperkeratosis): KRT1 (Striate palmoplantar keratoderma 3, Epidermolytic hyperkeratosis, IHCM) · KRT2E (Ichthyosis bullosa of Siemens) · KRT3 (Meesmann juvenile epithelial corneal dystrophy) · KRT4 (White sponge nevus) · KRT5 (Epidermolysis bullosa simplex) · KRT8 (Familial cirrhosis) · KRT10 (Epidermolytic hyperkeratosis) · KRT12 (Meesmann juvenile epithelial corneal dystrophy) · KRT13 (White sponge nevus) · KRT14 (Epidermolysis bullosa simplex) · KRT17 (Steatocystoma multiplex) · KRT18 (Familial cirrhosis) · KRT81/KRT83/KRT86 (Monilethrix) · Naegeli–Franceschetti–Jadassohn syndrome · Reticular pigmented anomaly of the flexures
3	Desmin: Desmin-related myofibrillar myopathy · Dilated cardiomyopathy 1I GFAP: Alexander disease Peripherin: Amyotrophic lateral sclerosis
4	Neurofilament: Parkinson's disease · Charcot–Marie–Tooth disease 1F, 2E · Amyotrophic lateral sclerosis
5	Laminopathy: LMNA (Mandibuloacral dysplasia, Dunnigan Familial partial lipodystrophy, Emery-Dreifuss muscular dystrophy 2, Limb-girdle muscular dystrophy 1B, Charcot–Marie–Tooth disease 2B1) · LMNB (Barraquer–Simons syndrome) · LEMD3 (Buschke–Ollendorff syndrome, Osteopoikilosis) · LBR (Pelger-Huet anomaly, Hydrops-ectopic calcification-moth-eaten skeletal dysplasia)

Microtubules

Kinesin	Charcot–Marie–Tooth disease 2A · Hereditary spastic paraplegia 10
Dynein	Primary ciliary dyskinesia · Short rib-polydactyly syndrome 3 · Asphyxiating thoracic dysplasia 3
Other	Tauopathy · Cavernous venous malformation

Membrane

Spectrin: Spinocerebellar ataxia 5 · Hereditary spherocytosis 2, 3 · Hereditary elliptocytosis 2, 3

Ankyrin: Long QT syndrome 4 · Hereditary spherocytosis 1

Catenin

APC (Gardner's syndrome, Familial adenomatous polyposis) · plakoglobin (Naxos syndrome) · GAN (Giant axonal neuropathy)

Other

desmoplakin: Striate palmoplantar keratoderma 2 · Carvajal syndrome · Arrhythmogenic right ventricular dysplasia 8

plectin: Epidermolysis bullosa simplex with muscular dystrophy · Epidermolysis bullosa simplex of Ogna

plakophilin: Skin fragility syndrome · Arrhythmogenic right ventricular dysplasia 9

centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II)

see also cytoskeletal proteins
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk