From HPO
Punctate palmoplantar hyperkeratosis- MedGen UID:
- 870406
- •Concept ID:
- C4024851
- •
- Disease or Syndrome
A palmoplantar keratosis characterized by keratoses with a "raindrop" pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution.
Nail dystrophy- MedGen UID:
- 66368
- •Concept ID:
- C0221260
- •
- Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
Onychogryposis- MedGen UID:
- 82671
- •Concept ID:
- C0263537
- •
- Disease or Syndrome
Nail that appears thick when viewed on end.
Nail dysplasia- MedGen UID:
- 331737
- •Concept ID:
- C1834405
- •
- Congenital Abnormality
The presence of developmental dysplasia of the nail.
Mottled pigmentation of the trunk and proximal extremities- MedGen UID:
- 342031
- •Concept ID:
- C1851551
- •
- Finding
Discrete 2 to 5-mm hyper- and hypopigmented macules- MedGen UID:
- 342032
- •Concept ID:
- C1851552
- •
- Finding
Abnormal blistering of the skin- MedGen UID:
- 412159
- •Concept ID:
- C2132198
- •
- Finding
The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.
Hypoplastic fifth toenail- MedGen UID:
- 868713
- •Concept ID:
- C4023116
- •
- Anatomical Abnormality
Underdeveloped nails of the fifth toes.
Intra-epidermal blistering- MedGen UID:
- 1779880
- •Concept ID:
- C5539821
- •
- Finding
A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes. In simplex EB, cleavage occurs in the basal layer, which is the innermost layer of the epidermis and consists of a single layer of basal germinative cells (mostly epidermal Keratinocytes) that proliferate and thereby produce new cells for other epidermal layers. As the cells move towards the upper layers of the epidermis they mature and eventually form cornified cells. The suprabasal cell layer lies directly above the basal layer and is composed of five to ten layers of cells.
- Abnormality of limbs
- Abnormality of the integument