Nail-patella syndrome (NPS, OMIM 161200) is an autosomaldominant disorder with a clinical characteristic tetrad consisting of fingernail dysplasia, hypoplastic or absent patellae, bony protuberances of the ilia (iliac...Nail-patella syndrome (NPS, OMIM 161200) is an autosomaldominant disorder with a clinical characteristic tetrad consisting of fingernail dysplasia, hypoplastic or absent patellae, bony protuberances of the ilia (iliac horns) and dislocation of the radial head. Kidney involvement may lead to renal failure, and there is an increased risk for glaucoma. Clinical diagnostic skin clues are triangular lunulae especially on the thumbs which are highly predictive for the NPS. A less known but even more important sign is the absence of skin creases on the dorsal aspects of the distal interphalangeal joints. Even in patients with normal nails the absence of distal interphalangeal creases was noted. Less specific skin changes are webbing between digits, within the popliteal fossae, hyperextensible joints, absent or fragile nails and grooved nails and longitudinal ridging with splitting. With increasing costs in the health care system, it is important to recognize diseases by specific clinical findings which are often as predictive and precise as expensive technical investigations.展开更多
Trichorhinophalangeal syndrome (TRPS) is a rare genodermatosis with growth retardation, craniofacial abnormalities, alopecia and brachyphalangia. Three subtypes with considerable clinical overlap can be separated. Num...Trichorhinophalangeal syndrome (TRPS) is a rare genodermatosis with growth retardation, craniofacial abnormalities, alopecia and brachyphalangia. Three subtypes with considerable clinical overlap can be separated. Numerous nail changes have been documented in this syndrome. We observed a 19- year- old female with typical TRPS I who developed unique V- shaped longitudinal nail dystrophies on both hands. TRPS belongs to the spectrum of ectodermal dysplasias, and therefore it is not surprising that cutaneous adnexal structures are involved in different ways.展开更多
文摘Nail-patella syndrome (NPS, OMIM 161200) is an autosomaldominant disorder with a clinical characteristic tetrad consisting of fingernail dysplasia, hypoplastic or absent patellae, bony protuberances of the ilia (iliac horns) and dislocation of the radial head. Kidney involvement may lead to renal failure, and there is an increased risk for glaucoma. Clinical diagnostic skin clues are triangular lunulae especially on the thumbs which are highly predictive for the NPS. A less known but even more important sign is the absence of skin creases on the dorsal aspects of the distal interphalangeal joints. Even in patients with normal nails the absence of distal interphalangeal creases was noted. Less specific skin changes are webbing between digits, within the popliteal fossae, hyperextensible joints, absent or fragile nails and grooved nails and longitudinal ridging with splitting. With increasing costs in the health care system, it is important to recognize diseases by specific clinical findings which are often as predictive and precise as expensive technical investigations.
文摘Trichorhinophalangeal syndrome (TRPS) is a rare genodermatosis with growth retardation, craniofacial abnormalities, alopecia and brachyphalangia. Three subtypes with considerable clinical overlap can be separated. Numerous nail changes have been documented in this syndrome. We observed a 19- year- old female with typical TRPS I who developed unique V- shaped longitudinal nail dystrophies on both hands. TRPS belongs to the spectrum of ectodermal dysplasias, and therefore it is not surprising that cutaneous adnexal structures are involved in different ways.
