{"Name":"Pachyonychia congenita syndrome","DiseaseID__c":"GARD:0010753","id":10753,"encodedName":"pachyonychia-congenita-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Pachyonychia congenita syndrome","Xref_IDs__c":"39427000; C0265334; C84986; D053549; DOID:0050449; MEDGEN:78556; MONDO:0016471; NBK1280; OMIMPS:167200; ORPHA:2309","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":2,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":4,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016471","Disease_Description__c":"A rare genetic skin disease predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and white plaques affecting tongue and oral mucosa.","GARD_Name__c":"Pachyonychia congenita syndrome","GARD_Synonym__c":"congenital pachyonychia; jackson-lawler type pachyonychia congenita; jadassohn-lewandowsky syndrome; pachyonychia congenita; pachyonychia congenita, jadassohn-lewandowsky type; pc","Curated_Disease_Description_Source__c":"GARD:0010753","Curated_Disease_Description__c":"Pachyonychia congenita is a condition that primarily affects the skin and nails. The signs and symptoms of this condition usually become apparent within the first few years of life. Almost everyone with pachyonychia congenita develops very painful calluses on the soles of the feet. This condition is known as plantar keratoderma. Calluses usually begin to form on the feet in childhood when kids first start to walk. The calluses can make walking painful or impossible. In some affected individuals, blisters, bundles of blood vessels and nerves (neurovascular structures), or a deep itch may develop under or near the calluses, increasing pain and discomfort. Most people with pachyonychia congenita also show some signs of hypertrophic nail dystrophy, which causes the fingernails and toenails to become thick and abnormally shaped. The number of affected nails varies. Pachyonychia congenita can have several additional features. These features include thickened skin on the palms of the hands (palmar keratoderma), which can be painful; thick, white patches on the tongue and inside of the cheeks (oral leukokeratosis); bumps that develop around hair follicles (follicular keratoses) on the elbows, knees, and waistline; cysts in the armpits, groin, back, or scalp; and excessive sweating on the palms and soles (palmoplantar hyperhidrosis). Some affected individuals also develop widespread cysts called steatocystomas, which are filled with an oily substance called sebum that normally lubricates the skin and hair. Some babies with pachyonychia congenita have prenatal or  natal teeth, which are teeth that are present at birth or in early infancy. Some babies and children with pachyonychia congenita have pain in one or both ears when beginning to eat or drink. Pachyonychia congenita can also affect the voice box (larynx), causing hoarseness or breathing problems.  Researchers used to classigy pachyonychia congenita as either PC-1 or PC-2 based on the genetic cause and pattern of signs and symptoms. However, as more affected individuals were identified, it became clear that the signs and symptoms of the types overlapped considerably. Pachyonychia congenita is now classified into five types based on the gene that is altered.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:2309","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016471","ORPHANET_ID__c":"ORPHA:2309","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Paquioniquia congénita","Spanish_Description_Source__c":"ORPHA:2309","Spanish_Description__c":"Es una enfermedad cutánea poco frecuente de origen genético que se manifiesta predominantemente como una queratodermia palmo-plantar dolorosa, engrosamiento de las uñas, quistes y placas blanquecinas en la lengua y la mucosa oral.","Spanish_Disease_Name__c":"paquioniquia congénita","Spanish_GARD_Synonym__c":"pc","Category_Linearization__c":"ORPHA:89826","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Pachyonychia congenita is a condition that primarily affects the skin and nails. The signs and symptoms of this condition usually become apparent within the first few years of life. Almost everyone with pachyonychia congenita develops very painful calluses on the soles of the feet. This condition is known as plantar keratoderma. Calluses usually begin to form on the feet in childhood when kids first start to walk. The calluses can make walking painful or impossible. In some affected individuals, blisters, bundles of blood vessels and nerves (neurovascular structures), or a deep itch may develop under or near the calluses, increasing pain and discomfort. Most people with pachyonychia congenita also show some signs of hypertrophic nail dystrophy, which causes the fingernails and toenails to become thick and abnormally shaped. The number of affected nails varies. Pachyonychia congenita can have several additional features. These features include thickened skin on the palms of the hands (palmar keratoderma), which can be painful; thick, white patches on the tongue and inside of the cheeks (oral leukokeratosis); bumps that develop around hair follicles (follicular keratoses) on the elbows, knees, and waistline; cysts in the armpits, groin, back, or scalp; and excessive sweating on the palms and soles (palmoplantar hyperhidrosis). Some affected individuals also develop widespread cysts called steatocystomas, which are filled with an oily substance called sebum that normally lubricates the skin and hair. Some babies with pachyonychia congenita have prenatal or  natal teeth, which are teeth that are present at birth or in early infancy. Some babies and children with pachyonychia congenita have pain in one or both ears when beginning to eat or drink. Pachyonychia congenita can also affect the voice box (larynx), causing hoarseness or breathing problems.  Researchers used to classigy pachyonychia congenita as either PC-1 or PC-2 based on the genetic cause and pattern of signs and symptoms. However, as more affected individuals were identified, it became clear that the signs and symptoms of the types overlapped considerably. Pachyonychia congenita is now classified into five types based on the gene that is altered.","Curated_Disease_Description_Source__c":"GARD:0010753","GARD_Synonym__c":"congenital pachyonychia; jackson-lawler type pachyonychia congenita; jadassohn-lewandowsky syndrome; pachyonychia congenita; pachyonychia congenita, jadassohn-lewandowsky type; pc","Name":"Pachyonychia congenita syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Pachyonychia Congenita Project","Website__c":"https://www.pachyonychia.org/"},{"Account_Name__c":"Ichthyosis Support Group","Website__c":"https://www.ichthyosis.org.uk/"},{"Account_Name__c":"Foundation for Ichthyosis and Related Skin Types","Website__c":"https://www.firstskinfoundation.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:2309"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0265334"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010753","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1280","Source__c":"Gene Review","Xref__c":"NBK1280"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050449","Source__c":"MONDO:0016471","Xref__c":"DOID:0050449"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C053549","Source__c":"C0265334; MONDO:0016471","Xref__c":"D053549"},{"URL__c":"https://www.orpha.net/en/disease/detail/2309","Source__c":"C0265334; MONDO:0016471; ORPHA:2309","Xref__c":"ORPHA:2309"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265334","Source__c":"C0265334","Xref__c":"C0265334"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78556","Source__c":"C0265334","Xref__c":"MEDGEN:78556"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS167200","Source__c":"MONDO:0016471","Xref__c":"OMIMPS:167200"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84986","Source__c":"C0265334; MONDO:0016471","Xref__c":"C84986"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016471","Source__c":"GARD:0010753","Xref__c":"MONDO:0016471"},{"URL__c":"https://medlineplus.gov/genetics/condition/pachyonychia-congenita","Source__c":"GARD:0010753","Xref__c":"https://medlineplus.gov/genetics/condition/pachyonychia-congenita"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=39427000","Source__c":"C0265334","Xref__c":"39427000"},{"URL__c":"https://www.niams.nih.gov/health-topics/pachyonychia-congenita"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KRT17","GHR_URL__c":"https://medlineplus.gov/genetics/gene/krt17","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KRT6B","GHR_URL__c":"https://medlineplus.gov/genetics/gene/krt6b","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KRT6A","GHR_URL__c":"https://medlineplus.gov/genetics/gene/krt6a","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KRT16","GHR_URL__c":"https://medlineplus.gov/genetics/gene/krt16","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2309","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012514","HPO_Synonym__c":"Leg pain; Lower limb pain","HPO_Name__c":"Lower limb pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2309","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin localized to the palm of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010765","HPO_Name__c":"Palmar hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2309","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Thickened fingernails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040036","HPO_Synonym__c":"Overgrowth and curving of fingernail","HPO_Name__c":"Onychogryphosis of fingernail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2309","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008404","HPO_Synonym__c":"Dystrophic nails; Onychodystrophy; Poor nail formation","HPO_Name__c":"Nail dystrophy","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2309","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030766","HPO_Synonym__c":"Ear pain; Otalgia; Pain in the ear","HPO_Name__c":"Ear pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2309","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Thickened toenails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008401","HPO_Synonym__c":"Overgrowth and curving of toenails","HPO_Name__c":"Onychogryphosis of toenails","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2309","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin of the palms of the hands and the soles of the feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000982","HPO_Synonym__c":"Keratoderma; Palmar and plantar keratoderma; Thickening of palms and soles","HPO_Name__c":"Palmoplantar keratoderma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2309","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A noncongenital process of hair loss, which may progress to partial or complete baldness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001596","HPO_Synonym__c":"Hair loss","HPO_Name__c":"Alopecia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2309","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A thickened white patch on the oral mucosa that cannot be rubbed off.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002745","HPO_Synonym__c":"leukokeratosis; Oral idiopathic keratosis; Oral idiopathic leukoplakia; Oral idiopathic white patch; Oral leucoplakia; Oral leukokeratosis; Oral leukoplasia; Oral white patch; Oral white plaque","HPO_Name__c":"Oral leukoplakia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2309","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007490","HPO_Name__c":"Linear arrays of macular hyperkeratoses in flexural areas","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2309","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006288","HPO_Synonym__c":"Advanced dental eruption; Advanced tooth eruption; Early dental eruption; Early eruption of teeth; Eruption, advanced; Premature dental eruption; Premature eruption of teeth; Premature tooth eruption","HPO_Name__c":"Advanced eruption of teeth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2309","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A type of inflammation of the lips involving one or both of the corners of the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030318","HPO_Synonym__c":"Angular cheilosis; Angular stomatitis; Commissural cheilitis; Inflammation of corners of the mouth; Inflammation of oral commisures; Red and sore corners of the mouth","HPO_Name__c":"Angular cheilitis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2309","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001609","HPO_Synonym__c":"Hoarse voice; Hoarseness; Husky voice","HPO_Name__c":"Hoarse voice","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2309","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002098","HPO_Synonym__c":"Breathing difficulties; Labored breathing; Respiratory difficulties","HPO_Name__c":"Respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2309","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"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).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012035","HPO_Name__c":"Steatocystoma multiplex","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2309","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2309","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007502","HPO_Synonym__c":"Hyperkeratosis follicularis","HPO_Name__c":"Follicular hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2309","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025245","HPO_Synonym__c":"Skin cyst","HPO_Name__c":"Cutaneous cyst","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2309","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the development of the fingernails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100798","HPO_Synonym__c":"Abnormal fingernail development; Dysplastic fingernails","HPO_Name__c":"Fingernail dysplasia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2309","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tooth present at birth or erupting within the first month of life.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000695","HPO_Synonym__c":"Born with teeth; Natal teeth; Neonatal teeth; Teeth present at birth","HPO_Name__c":"Natal tooth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2309","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of blistering that affects the skin of the palms of the hands and the soles of the feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007446","HPO_Name__c":"Palmoplantar blistering","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2309","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001818","HPO_Name__c":"Paronychia","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2309","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025248","HPO_Name__c":"Eruptive vellus hair cyst","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2309","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2309","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030268","HPO_Name__c":"Hyperplastic callus formation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2309","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200040","HPO_Synonym__c":"Epidermal cyst; Epidermal inclusion cyst; Infundibular cyst; Keratin cyst","HPO_Name__c":"Epidermoid cyst","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2309","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally increased perspiration on palms and soles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007410","HPO_Synonym__c":"Excessive sweating of palms and soles; Hyperhidrosis of palms and soles","HPO_Name__c":"Palmoplantar hyperhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Dermatology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["congenital pachyonychia"," jackson-lawler type pachyonychia congenita"," jadassohn-lewandowsky syndrome"," pachyonychia congenita"," pachyonychia congenita, jadassohn-lewandowsky type"," pc"]}