progressive osseous heteroplasia
A rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation.
MONDO:0018231
obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments (obsolete MONDO:0018231)
excluded_subClassOf
MONDO:0021154
dermis disorder
is_a
MONDO:0100118
hereditary skin disorder
is_a
MONDO:0800466
disorder of GNAS inactivation
is_a
POH
exact
ectopic ossification familial type
related
familial ectopic ossification
exact
osseous heteroplasia, progressive
related
poh
exact