Dermatopathia pigmentosa reticularis

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Dermatopathia pigmentosa reticularis
Classification and external resources
OMIM	125595

Dermatopathia pigmentosa reticularis (also known as "Dermatopathia pigmentosa reticularis hyperkeratotica et mutilans," "Dermatopathia pigmentosa reticularis hypohidotica et atrophica," and "Dermatopathic pigmentosa reticularis"^[1]^:511) is a rare, autosomal dominant^[2] congenital disorder that is a form of ectodermal dysplasia. Dermatopathia pigmentosa reticularis is composed of the triad of generalized reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy.^[3]^:856

1 Presentation
2 Cause
3 See also
4 External links
5 References

[edit] Presentation

Symptoms include lack of sweat glands, thin hair, brittle nails, mottled skin, and lack of fingerprints.

[edit] Cause

DPR is comparable to Naegeli syndrome, both of which are caused by a specific defect in the keratin 14 protein.^[4]

Dermatopathia pigmentosa reticularis has an autosomal dominant pattern of inheritance.

[edit] See also

[edit] External links

[edit] References

^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0071380760.
^ Heimer WL II, Brauner G, James WD (1992). "Dermatopathia pigmentosa reticularis: a report of a family demonstrating autosomal dominant inheritance". J Am Acad Dermatol. 6 (2 pt. 2): 298–301. doi:10.1016/0190-9622(92)70039-I. PMID 1303619.
^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0721629210.
^ Lugassy J, Itin P, Ishida-Yamamoto A, et al. (October 2006). "Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14". Am. J. Hum. Genet. 79 (4): 724–30. doi:10.1086/507792. PMC 1592572. PMID 16960809. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)63083-3.

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

JEB (JEB-H, Mitis, Generalized atrophic, JEB-PA)

DEB (DDEB, RDEB)

Ectodermal dysplasia

Naegeli syndrome/Dermatopathia pigmentosa reticularis · Hay–Wells syndrome · Hypohidrotic ectodermal dysplasia · Focal dermal hypoplasia · Ellis–van Creveld syndrome · Rapp–Hodgkin syndrome/Hay–Wells syndrome

Elastic/Connective

Ehlers–Danlos syndrome · Cutis laxa (Gerodermia osteodysplastica) · Popliteal pterygium syndrome · Pseudoxanthoma elasticum · Van Der Woude syndrome

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

cadherin (EEM syndrome) · immune system (Hereditary lymphedema, Mastocytosis/Urticaria pigmentosa) · Hailey–Hailey

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

M: INT, SF, LCT

anat/phys/devp

noco(i/b/d/q/u/r/p/m/k/v/f)/cong/tumr(n/e/d), sysi/epon

proc, drug (D2/3/4/5/8/11)

v t e Genetic disorder, extracellular: scleroprotein disease (excluding laminin and keratin)

Collagen disease	COL1: Osteogenesis imperfecta · Ehlers–Danlos syndrome, types 1, 2, 7 COL2: Hypochondrogenesis · Achondrogenesis type 2 · Stickler syndrome · Marshall syndrome · Spondyloepiphyseal dysplasia congenita · Spondyloepimetaphyseal dysplasia, Strudwick type · Kniest dysplasia (see also C2/11) COL3: Ehlers–Danlos syndrome, types 3 & 4 (Sack–Barabas syndrome) COL4: Alport syndrome COL5: Ehlers–Danlos syndrome, types 1 & 2 COL6: Bethlem myopathy · Ullrich congenital muscular dystrophy COL7: Epidermolysis bullosa dystrophica · Recessive dystrophic epidermolysis bullosa · Bart syndrome · Transient bullous dermolysis of the newborn COL8: Fuchs' dystrophy 1 COL9: Multiple epiphyseal dysplasia 2, 3, 6 COL10: Schmid metaphyseal chondrodysplasia COL11: Weissenbacher–Zweymüller syndrome · Otospondylomegaepiphyseal dysplasia (see also C2/11) COL17: Bullous pemphigoid

Laminin	Junctional epidermolysis bullosa · Laryngoonychocutaneous syndrome

Other	Congenital stromal corneal dystrophy · Raine syndrome · Urbach–Wiethe disease · TECTA (DFNA8/12, DFNB21)

see also fibrous 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

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Dermatopathia pigmentosa reticularis

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[edit] Cause

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