Phenotypes associated with the disease Pachyonychia congenita (ORPHA:2309):
- Palmoplantar keratoderma (HP:0000982): Abnormal thickening of the skin of the palms of the hands and the soles of the feet. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2309)
- Palmoplantar blistering (HP:0007446): A type of blistering that affects the skin of the palms of the hands and the soles of the feet. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2309)
- Onychogryphosis of toenails (HP:0008401): Thickened toenails. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2309)
- Nail dystrophy (HP:0008404): 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. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2309)
- Lower limb pain (HP:0012514): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2309)
- Hyperplastic callus formation (HP:0030268): Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2309)
- Oral leukoplakia (HP:0002745): A thickened white patch on the oral mucosa that cannot be rubbed off. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2309)
- Palmoplantar hyperhidrosis (HP:0007410): An abnormally increased perspiration on palms and soles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2309)
- Linear arrays of macular hyperkeratoses in flexural areas (HP:0007490). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2309)
- Follicular hyperkeratosis (HP:0007502): A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2309)
- Palmar hyperkeratosis (HP:0010765): Abnormal thickening of the skin localized to the palm of the hand. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2309)
- Steatocystoma multiplex (HP:0012035): Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2309)
- Cutaneous cyst (HP:0025245): A hollow mass located in the skin that is surrounded by an epithelium-lined wall and is well demarcated from the adjacent tissue. Cysts are often said to be sac-like and may contain serous liquid or semisolid material. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2309)
- Onychogryphosis of fingernail (HP:0040036): Thickened fingernails. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2309)
- Fingernail dysplasia (HP:0100798): An abnormality of the development of the fingernails. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2309)
- Epidermoid cyst (HP:0200040): Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts. A central, dark comedone opening (punctum) may be present. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2309)
- Natal tooth (HP:0000695): A tooth present at birth or erupting within the first month of life. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2309)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2309)
- Paronychia (HP:0001818): The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2309)
- Advanced eruption of teeth (HP:0006288): Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2309)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2309)
- Eruptive vellus hair cyst (HP:0025248): A cutaneous cyst that is small (one or two millimeters in diameter) and painless, presenting as a follicular papule that usually is skin colored but may have a reddish or brownish tinge. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2309)
- Ear pain (HP:0030766): Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2309)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2309)
- Hoarse voice (HP:0001609): Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2309)
- Respiratory distress (HP:0002098): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2309)
- Angular cheilitis (HP:0030318): A type of inflammation of the lips involving one or both of the corners of the mouth. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2309)