TaoMedAI/RareMedData huggingface dataset:
PCNA-related progressive neurodegenerative photosensitivity syndrome (ORPHA:438134)
A rare developmental defect during embyogenesis caused by homozygous mutations in the PCNA gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline.
PDE4D haploinsufficiency syndrome (ORPHA:439822)
PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.
Pectus excavatum-macrocephaly-dysplastic nails syndrome (ORPHA:2835)
Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992.
Pediatric arterial ischemic stroke (ORPHA:439175)
A rare neurologic condition characterized by focal cerebral ischemia and infarction due to blockage of a brain artery with subsequent impairment of blood supply and oxygenation of brain tissue. Most children present with hemiparesis with or without facial palsy at stroke onset. In addition, compared to adults, children more often suffer strokes in the posterior circulation, leading to ataxia or oculomotor disturbance. Likewise, aphasia is more frequent in pediatric patients. Other signs and symptoms include seizures, headache, vomiting, and alterations in the level of consciousness. Children under one year of age are more likely to present with seizures and altered level of consciousness, while older children more often show focal neurological deficits.
Pediatric collagenous gastritis (ORPHA:487809)
A rare gastroenterologic disease characterized by the histopathological finding of a thickened (> 10 µm) gastric subepithelial collagen layer in association with an inflammatory infiltrate in the lamina propria. Patients typically present with upper abdominal pain and severe iron deficiency anemia. The condition is not commonly associated with autoimmune diseases, and involvement of the colon is less frequent than in the adult form. The disease takes a generally benign course with limited long-term morbidity and no increased mortality.
Pediatric multiple sclerosis (ORPHA:477738)
Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on initial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported.
Pediatric systemic lupus erythematosus (ORPHA:93552)
A rare, systemic, autoimmune disease characterized by inflammation in any organ system, with onset prior to adulthood, presenting highly variable clinical manifestations, which usually have a more aggressive course and higher rate of major organ involvement than adult-onset systemic lupus erythematosus, resulting in potential damage to a variety of organs (e.g. the skin, kidneys, lungs, nervous system).
Pediatric-onset glaucoma of genetic origin (ORPHA:359)
A clinically diverse group of rare eye disorders with genetic predisposition characterized by elevated intraocular pressure (IOP) and glaucomatous changes of the optic nerve head, leading to field defects, visual loss and blindness. It can be sub-classified as primary (congenital glaucoma, juvenile glaucoma) or secondary according to the presence or absence of systemic or other ocular anomalies (iridogoniodysgenesis, Stickler syndrome, Coats syndrome). The clinical presentation is variable and is based on age, severity of glaucoma, presence of ocular abnormalities and development of secondary IOP related abnormalities.
Pediatric-onset Graves disease (ORPHA:525731)
A rare endocrine disease characterized by the presence of serum autoantibodies against thyroid-stimulating hormone receptors, leading to increased thyroid hormone production and secretion, causing diffuse toxic goiter. Patients present in childhood with signs of thyrotoxicosis (such as tachycardia, weight loss, hand tremor, and sweating), diffuse enlargement of the thyroid gland, and orbitopathy. Additional signs and symptoms include decreased academic and athletic performance, accelerated growth, restlessness, fatigue, sensitivity to heat, and amenorrhea, among others.
Peeling skin syndrome type A (ORPHA:263548)
A noninflammatory form of generalized PSS characterized by white scaling and superficial painless peeling of the skin.
Epidemiology
The prevalence is unknown. To date, few cases have been reported in the literature.
Clinical description
Onset of symptoms can be at birth or later in life. Individuals may present with erythroderma accompanied by dry skin and superficial peeling of the skin upon minor trauma leaving red, denuded areas. The lesions heal with hyperpigmentation without scarring. Warm and humid environments aggravate the peeling tendency. Hyperkeratosis and scaling may also be present over the knees and elbows. Pruritus is variably observed. Hair is normal. There is no history of erythema or atopy and patients are in good general health.
Etiology
There are three different causal genes reported to date: CHST8, SERPINB8 and FLG2. These genes are involved in skin homeostasis and barrier function but their specific role in the epidermis remains elusive, except for FLG2 which is known to be involved in skin moisturization.
Diagnostic methods
Diagnosis is based on clinical features. Histological examination of skin lesion biopsies reveals a slight hyperkeratosis, thinning of the granular layer and a separation of the stratum corneum from the underlying stratum granulosum or an intracorneal split. Molecular analysis, if performed, may reveal mutations in one of the three causal genes.
Differential diagnosis
Differential diagnosis includes other forms of PSS, PLACK syndrome and staphylococcal scalded skin syndrome.
Antenatal diagnosis
The disease does not seem to be severe enough to justify prenatal screening.
Genetic counseling
Transmission is autosomal recessive. Genetic counseling should be offered to affected families informing them of the risk of 25% for a healthy carrier parent to have an affected child.
Management and treatment
No effective treatment has been reported. Emollients are often used to reduce skin peeling.
Prognosis
Noninflammatory skin peeling has a good prognosis and is mainly a cosmetic problem. In young patients, the condition may improve during childhood.

                            Last update: 
                            January 2023


                            - Expert reviewer(s): 
                            Dr Nathalie JONCA  - Pr Juliette MAZEREEUW-HAUTIER | ERN-Skin*


                                * European Reference Network
Peeling skin syndrome (ORPHA:817)
A group of rare autosomal recessive forms of ichthyosis clinically characterized by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution for generalized PSS type A (noninflammatory) or B (inflammatory).
Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome (ORPHA:444138)
A rare genetic skin disease characterized by generalized skin peeling or superficial blisters without scarring, leukonychia, acral punctate keratoses coalescing into focal keratoderma on the weight-bearing areas, painful angular cheilitis, and knuckle pads with multiple hyperkeratotic micropapules. The skin appears dry and scaly with superficial exfoliation and underlying erythema. Histopathologic examination of affected skin areas is not specific and shows hyperkeratosis, acanthosis, and occasional intraepidermal clefting with irregular acantholysis.
PEHO-like syndrome (ORPHA:99807)
PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.
Pelizaeus-Merzbacher disease in female carriers (ORPHA:280229)
Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD (see this term) in some women carrying mutations in the PLP1 gene (Xq22).
Epidemiology
Prevalence is unknown.
Clinical description
Heterozygous females are not usually affected in families with the more severe PMD forms, including classical, transitional and connatal forms (see these terms), but are more likely to develop symptoms, possibly during adulthood, in families with more mildly affected males, such as in the null syndrome and SPG2 kindreds (see these terms). In some of the families with more severe male phenotypes, heterozygous females may manifest transient neurologic signs similar to those of boys with PMD, but from which they recover as they reach late childhood or adolescence.
Etiology
PMD is due to mutations or dosage alterations of the PLP1 gene (on Xq22) that cause hypomyelination of the central nervous system. PLP1 encodes the proteolipid protein (PLP), the most abundant protein of the myelin sheath in the central nervous system, and its alternatively spliced isoform (DM20). PMD is inherited as an X-linked disorder, usually with only males being affected. With the severe forms of the disease, oligodendrocytes undergo apoptosis. In heterozygous females, the degenerating oligodendrocytes are replaced by oligodendrocytes that have inactivated the mutated PLP1 allele. Therefore, unless there is severely unfavourably skewed X-inactivation, such females will be unaffected, and the disorder will have an X-linked recessive inheritance pattern. In contrast, in families where the PLP1 mutation causes little or no oligodendrocyte apoptosis, such as in the null syndrome, the defective oligodendrocytes survive in heterozygous females, who are more likely to have neurologic signs, typically later in adult life. In such cases, the disorder can be argued to have an X-linked dominant transmission pattern with variable penetrance.

                            Last update: 
                            October 2011


                            - Expert reviewer(s): 
                            Dr James GARBERN
Pelizaeus-Merzbacher disease, classic form (ORPHA:280219)
The classic form of Pelizaeus-Merzbacher disease (PMD) is the infantile form of PMD.
Epidemiology
PMD has an estimated prevalence of 1/400,000. The classic form accounts for approximately 70% of all cases of PMD. It predominantly affects males.
Clinical description
The classic form of PMD manifests during the first months of life with nystagmus and hypotonia, which is progressively replaced by spasticity. Later signs include ataxia, sometimes associated with dystonia of the axis and limbs, weakness, dysarthria, impaired motor development and intellectual deficit. Patients may learn to walk with assistance and their speech is understandable but slow.
Etiology
The classic form of PMD is due most often to duplications but can also result from missense mutations of the PLP1 gene (on Xq22) that cause hypomyelination of the central nervous system. PLP1 encodes the proteolipid protein (PLP), the most abundant protein of the myelin sheath in the central nervous system, and its alternatively spliced isoform (DM20).
Genetic counseling
The disease has an X-linked inheritance pattern.

                            Last update: 
                            October 2011


                            - Expert reviewer(s): 
                            Dr James GARBERN
Pelizaeus-Merzbacher disease, connatal form (ORPHA:280210)
The connatal form of Pelizaeus-Merzbacher disease (PMD) is the most severe form of PMD (see this term).
Epidemiology
PMD has an estimated prevalence of 1/400,000. The connatal form accounts for approximately 10 to 15 % of all cases of PMD. It predominantly affects males.
Clinical description
Connatal PMD presents, from birth, with hypotonia, nystagmus, respiratory distress, stridor, feeding difficulties and sometimes seizures. Subsequently, there is profound motor and cognitive delay and spastic quadriparesis. Patients never learn to walk, have limited language skills and usually die from respiratory complications by the second decade.
Etiology
The connatal form of PMD is due to missense mutations of the PLP1 gene (on Xq22) that cause hypomyelination of the central nervous system with profound myelin loss. PLP1 encodes the proteolipid protein (PLP), the most abundant protein of the myelin sheath in the central nervous system, and its alternatively spliced isoform (DM20).
Genetic counseling
The disease has an X-linked inheritance pattern.

                            Last update: 
                            October 2011


                            - Expert reviewer(s): 
                            Dr James GARBERN
Pelizaeus-Merzbacher disease, transitional form (ORPHA:280224)
The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term).
Epidemiology
PMD has an estimated prevalence of 1/400,000. The transitional form accounts for about 15% of all cases of PMD. It predominantly affects males.
Clinical description
The predominant clinical findings are early-onset nystagmus, initial hypotonia that is replaced by spasticity later in life, moderate cognitive impairment and inability to ambulate.
Etiology
The transitional form of PMD is most often due to missense mutations of the PLP1 gene (on Xq22) that cause hypomyelination of the central nervous system. Some duplications or triplications of the gene can also cause the transitional form. PLP1 encodes the proteolipid protein (PLP), the most abundant protein of the myelin sheath in the central nervous system, and its alternatively spliced isoform (DM20).
Genetic counseling
The disease has an X-linked inheritance pattern.

                            Last update: 
                            October 2011


                            - Expert reviewer(s): 
                            Dr James GARBERN
Pelizaeus-Merzbacher-like disease (ORPHA:280270)
Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; see this term).
Epidemiology
Prevalence is unknown.
Clinical description
It is characterized by early-onset nystagmus, delayed motor milestones, progressive spasticity, ataxia, and diffuse leukodystrophy on MRI.
Etiology
One PMLD form is due to mutations in the GJC2 gene encoding the gap junction protein C2. There are very likely other PMLD forms that have not been defined but that are caused by mutations affecting other genes involved in myelination. Other syndromes have also been referred to as PMLD but their inclusion as PMLD has been debated because of their severity and of the evidence of neuronal, besides white matter, involvement on MRI. These syndromes include an autosomal recessive syndrome due to mutations in the HSPD1 gene, encoding the heat shock protein 1, that resembles severe PMD (nystagmus, developmental delay, spasticity, feeding and breathing problems, early-onset lethality) and that is associated with acquired microcephaly, as well as a syndrome due to mutations in the AIMP1 gene, encoding the aminoacyl tRNA synthetase complex-interacting multifunctional protein 1, and characterized by nystagmus, axial hypotonia, spastic paraparesis, severe developmental delay, kyphoscoliosis, microcephaly, intellectual deficit, and absence of speech. An X-linked syndrome, allelic to Allan-Herndon-Dudley syndrome (see this term), has also been referred to as a PMLD. This syndrome is characterized by neonatal hypotonia, nystagmus, progressive spastic paraplegia, ataxia and developmental delay, and is due to mutations in the SLC16A2 gene encoding the monocarboxylate transporter 8 involved in thyroid hormone transport. However, MRI findings are not as severe as those of PMD (diffuse hypomyelination), and tend to improve over time, making this more of a delayed myelination disorder that is probably secondary to a neuronal dysfunction related to impaired thyroid hormone transport.

                            Last update: 
                            October 2011


                            - Expert reviewer(s): 
                            Dr James GARBERN
Pellagra (ORPHA:97352)
Pellagra is a nutritional disorder caused by a deficiency in niacin (vitamin B3) or its precursor (tryptophan) that is mainly observed in Asia and Africa where it is generally due to poor nutrition. It is characterized by dermatitis (symmetrical photodistributed erythema that may be accompanied by vesicles and bullae, and that develops into hyperkeratotic and hyperpigmented skin), gastrointestinal symptoms (diarrhea), and neuropsychiatric disorders (dementia). It can be life-threatening without a correct management.
Pellucid marginal degeneration (ORPHA:137672)
A rare disorder of the anterior segment of the eye characterized by slowly progressive, bilateral, non-ulcerative, non-inflammatory, clear thinning of the inferior portion of the peripheral cornea (extending from the 4 o'clock to the 8 o'clock position), with an area of corneal protrusion above the point of maximal thinning, resulting in against-the-rule astigmatism with decreased visual acuity. The central cornea is of normal thickness.
Pelvic dysplasia-arthrogryposis of lower limbs syndrome (ORPHA:2840)
Pelvic dysplasia-arthrogryposis of lower limbs syndrome is a rare, genetic, dysostosis syndrome characterized by intrauterine growth restriction, short stature (with short lower segment), lower limb joint contractures and muscular hypotrophy, narrow, small pelvis, lumbar hyperlordosis with scoliosis, and foot deformity (short, overlapping toes). Imaging reveals ovoid/wedge-shaped vertebral bodies, pelvic and skeletal hypoplasia with metatarsal fusion in the lower limbs, and normal skull and upper limbs.
Pelvis-shoulder dysplasia (ORPHA:2839)
Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis.
Epidemiology
Approximately 10 patients have been reported so far.
Clinical description
Additional skeletal abnormalities may include hypoplasia of the clavicles, ribs, femora and fibula, together with spina bifida and prominent lumbar lordosis. Eye anomalies (coloboma of iris and retina) have occasionally been reported. Intelligence is described as normal.
Etiology
Pelvis-shoulder dysplasia seems to be a genetically heterogeneous disorder but no causative genes have been identified so far.
Differential diagnosis
Pelvis-shoulder dysplasia is phenotypically similar to pelvis-scapular dysplasia (Cousin syndrome, which also presents with craniocervical abnormalities; see this term), and, according to some authors, the two entities represent different manifestations of the same disease.
Genetic counseling
Autosomal dominant inheritance has been described in some cases.

                            Last update: 
                            December 2008


                            - Expert reviewer(s): 
                            Pr Raoul HENNEKAM
Pelviscapular dysplasia (ORPHA:93333)
Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.
Epidemiology
Pelviscapular dysplasia was initially described in a North African brother and sister. Two other unrelated patients (a German and a Turkish girl) from consanguineous families have recently been reported.
Clinical description
The facial dysmorphism is characterized by frontal bossing, hypertelorism, narrow palpebral fissures, deep-set eyes, strabismus, low-set posteriorly rotated and malformed ears, dysplasia of conchae, a small chin, a short neck with redundant skin folds, and a low hairline. Intelligence may vary from normal to moderately impaired. Pelviscapular dysplasia is phenotypically similar to pelvis-shoulder dysplasia (Kosenow syndrome, scapuloiliac dysostosis; see this term), and the two entities may represent different manifestations of the same disease. However, Kosenow syndrome is not associated with craniocervical abnormalities and seems to be inherited as an autosomal dominant trait.
Etiology
Mutations in the TBX15 gene have been identified as potentially causative.
Diagnostic methods
Radiographic features comprise aplasia of the body of the scapula, hypoplasia of the iliac bone, humeroradial synostosis, dislocation of the femoral heads, and moderate brachydactyly.
Genetic counseling
An autosomal recessive mode of transmission has been suggested.

                            Last update: 
                            December 2008


                            - Expert reviewer(s): 
                            Pr Raoul HENNEKAM
Pemphigus erythematosus (ORPHA:79480)
A rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed.
Pemphigus foliaceus (ORPHA:79481)
A rare superficial pemphigus disease characterized by multiple, pruritic, scaly, crusted cutaneous erosions, with flaky circumscribed patches, localized mostly on the face, scalp, trunk and extremities, often presenting an erythematous base. Mucosal involvement is rarely observed.
Pemphigus vegetans (ORPHA:79479)
A rare autoimmune bullous skin disease characterized by mucocutaneous bullae with subsequent erosion and formation of vegetative plaques, predominantly affecting intertriginous areas and the oral mucosa. Two clinical forms of the disease are recognized: the Hallopeau type, which presents an indolent course with pustules healing as vegetative plaques and frequent lack of involvement of the oral mucosa, and the Neumann type, which takes a more severe, refractory course with vegetations developing during an eruption of vesiculobullous lesions and involvement of the oral mucosa. Serum analysis reveals antibodies against desmoglein 1 and 3.
Penile agenesis (ORPHA:49)
Penile agenesis is a rare urogenital tract malformation characterized by complete congenital absence of the phallus. It is usually accompanied by a well-developed scrotum and presence of a skin tag at the anal verge (with or without a urethral meatal opening within it). Often, other genitourinary (e.g. cryptorchidism, renal agenesis and dysplasia, urinary reflux, prostate agenesis) as well as non-genitourinary abnormalities (including skeletal and neural disorders, anal stenosis, imperforate anus, cardiac defects) are associated.