Genetic syndromes associated with cutaneous hyperpigmentation

Syndrome	Inheritance	Mutated gene	Clinical features related to hyperpigmentation	Comments
Carney syndrome (NAME/LAMB syndrome)	Autosomal dominant	PRKAR1A	Nevi, ephelides lentigines, blue nevi
Cronkhite-Canada syndrome	Sporadic	Unknown, considered to be an idiopathic and acquired disorder	Lentigines of buccal mucosa, face, hands/feet	Typically affects older men Associated with alopecia, nail dystrophy, intestinal polyposis
Dowling-Degos	Autosomal dominant with variable penetrance	KRT5	Reticulated hyperpigmentation of the flexures	Associated with pitted facial scars and comedone-like lesions on the back and neck
Dyskeratosis congenita	X-linked recessive	DKC1	Reticulated hyperpigmentation primarily on the neck, upper chest, and upper arms	Associated with bone marrow dysfunction and predisposition to malignancy, in particular mucosal squamous cell carcinoma, leukemia, and Hodgkin's disease
LEOPARD syndrome	Autosomal dominant	PTPN11	Lentigines present in early infancy/childhood	Associated with EKG changes, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, growth retardation, deafness
McCune-Albright syndrome	Sporadic	GNAS1	Café-au-lait-macules which usually appear in infancy and can overlie bony changes	Associated with polyostotic fibrous dysplasia, hyperfunction of endocrine glands, especially the gonads with precocious puberty
Neurofibromatosis type 1	Autosomal dominant	NF1	Multiple café-au-lait macules Axillary or inguinal freckling	Café-au-lait macules and freckles usually precede the appearance of neurofibromas
Peutz-Jeghers syndrome	Autosomal dominant	STK11	Lentigines over perioral region, oral mucosa, hands	Associated with pancreatic carcinoma, ovarian/testicular tumors
Reticulate acropigmentation of Kitamura	Autosomal dominant	ADAM10	Atrophic, acral, lentigo-like lesions	Associated with palmoplantar and dorsal phalangeal pitting

NAME: nevi, atrial myxoma, myxoid neurofibroma, ephelides; LAMB: lentigines, atrial myxoma, mucocutaneous myxoma, blue nevi; LEOPARD: electrocardiogram abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness; EKG: electrocardiogram.

Graphic 94245 Version 3.0

خرید پکیج

Genetic syndromes associated with cutaneous hyperpigmentation