TaoMedAI/RareMedData huggingface dataset:
Crouzon syndrome-acanthosis nigricans syndrome (ORPHA:93262)
Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).
Epidemiology
CAN has an estimated prevalence of 1/1,000,000 newborns. Fewer than 70 cases have been described in the medical literature. A female-to-male sex ratio of 2.4:1 has been reported.
Clinical description
All patients have congenital craniofacial abnormalities consistent with classic Crouzon syndrome including craniosynostosis, midface hypoplasia, shallow orbits with exophthalmos, down-slanting palpebral fissures and hypertelorism, maxillary hypoplasia with convex nose and posteriorly angulated ears. The synostosis usually involves the coronal sutures. Cases of cloverleaf skull have also been reported. Patients also develop velvety hyperpigmented skin (AN) within the first decade of life, found primarily in body folds such as the neck, axillae, eyelids, and the perioral, inguinal and perianal areas. The skin disorder is sometimes widespread and develops early compared to classic AN. Craniovertebral junction and vertebral anomalies such as mild alterations of the interpediculate distances of the distal vertebral column are subtle and inconstant. Choanal atresia or stenosis is often present (41%), and is considered highly suggestive of CAN. Other commonly reported signs include hydrocephalus (43%), oral abnormalities such as cleft palate (see this term), dental malocclusion, cementomas of the jaw (34%), and melanocytic nevi (25%). Kidney involvement has also been reported. Some of these specific features are rare in patients with classic Crouzon syndrome. Intellectual disability, hearing loss and speech delay are uncommon. The severity is the same in affected males and females.
Etiology
CAN is caused by a specific p.Ala391Glu mutation in the fibroblast growth-factor receptor 3 FGFR3 gene (4p16.3), involved in regulation of cell proliferation, differentiation and apoptosis. AN is associated with inadequate stimulation of various fibroblast growth-factor receptors.
Genetic counseling
Most cases are sporadic, associated with paternal aging, although familial cases consistent with autosomal dominant inheritance have been reported.

                            Last update: 
                            October 2014


                            - Expert reviewer(s): 
                            Dr Corinne COLLET  - Pr Federico DI ROCCO
Crouzon syndrome (ORPHA:207)
Crouzon disease is characterized by craniosynostosis and facial hypoplasia.
Epidemiology
The estimated prevalence in the general population of Europe is 0.9/100,000 .
Clinical description
Craniosynostosis is variable but many sutures are usually involved. The facial dysmorphology is characterized by ocular hypertelorism, small beaked nose, proptosis, exophthalmos, hypoplastic maxilla and mandibular prognathism. The synostosis is evolutive and is usually either not visible or only slightly visible at birth. It usually manifests by the age of 2 years and becomes progressively more severe. However, precocious and congenital forms have been reported in which hypoplasia of the upper maxilla is pronounced and leads to respiratory difficulties, and the exophthalmia is severe resulting in palpebral malocclusion. Hydrocephaly, descent of the cerebellar tonsils and anomalies in jugular venous drainage are also frequently observed in Crouzon disease and may pose therapeutic problems. Two thirds of patients with Crouzon disease have intracranial hypertension, which may lead to blindness.
Etiology
Crouzon disease is caused by mutations of the fibroblast growth factor receptor FGFR2 (10q25.3-q26) with 80% being located to the immunoglobulin (Ig)-like domain III (IgIII domain) of the extracellular region and an additional 20% of mutations being located in the IgI-IgII domains, transmembrane and tyrosine kinase regions. A distinct form of Crouzon disease associated with acanthosis nigricans has been reported and is caused by a specific mutation (p.Ala391Glu) in the transmembrane domain of another protein from the same family, FGFR3 (Crouzon syndrome - acanthosisnigricans; see this term). Moreover, mutations in ERF (19q13.2) gene encoding the ETS2 repressor, resulting in anosteogenic stimulation, have been associated to a Crouzon-like syndrome.
Genetic counseling
The disease is transmitted in an autosomal dominant manner with variable penetrance.
Management and treatment
Surgical interventions are aimed at preventing cerebral, ophthalmological or respiratory complications and correcting the cranio-facial dysmorphy. The craniofacial surgical approach adopted needs to take into account both the cranial and facial synostosis and should be tailored to each patient.

                            Last update: 
                            November 2013


                            - Expert reviewer(s): 
                            Dr Eric ARNAUD  - Dr Corinne COLLET  - Pr Federico DI ROCCO
Cryptococcosis (ORPHA:1546)
A cosmopolitan fungal infection due to Cryptococcus neoformans.
Epidemiology
Annual incidence has been estimated at between 1/5,000 and 1/50,000 depending on the geographic region. Immunodeficient patients are the main target.
Clinical description
Primary pulmonary cryptococcosis is usually asymptomatic, but disseminates throughout the organism, particularly to the central nervous system causing subacute meningoencephalitis. Mucocutaneous infection is frequent.
Etiology
C. neoformans is an encapsulated yeast that reproduces by budding. It is abundant in the ground, in fruit, milk, and pigeon droppings. Infection is acquired via the respiratory or digestive route, rarely through the skin, and disseminates in the organism by blood or the lymphatic system. Interhuman transmission does not occur.
Diagnostic methods
Diagnosis is made after detection of encapsulated yeast in cerebrospinal fluid or other affected organs, or in cultures.
Differential diagnosis
Differential diagnoses include the other species of Cryptococcus.
Management and treatment
Amphotericin B and newer antifungal drugs (triazoles) sterilize the lesions. The treatment should be continued for as long as the patient is immunodeficient.
Prognosis
The prognosis is usually good if treatment is well conducted.

                            Last update: 
                            October 2008


                            - Expert reviewer(s): 
                            Dr Annick DATRY
Cryptogenic late-onset epileptic spasms (ORPHA:163708)
Cryptogenic late-onset epileptic spasms is a rare epilepsy syndrome characterized by late-onset (after 1 year old) epileptic spasms that ocurr in clusters, associated with tonic seizures, atypical absences and cognitive deterioration. Language difficulties and behavior problems are frequently present. EEG is characterized by a temporal, or temporofrontal, slow wave or spike focus combined with synchronous spike-waves and no hypsarrhythmia or background activity.
Cryptogenic multifocal ulcerous stenosing enteritis (ORPHA:468635)
A rare intestinal disease characterized by chronic or relapsing subileus or ileus resulting from multiple unexplained fibrous structures and multiple shallow (i. e. limited to the mucosa or submucosa) ulcerations of the small intestine (mainly the ileum), in the absence of signs of a systemic inflammatory reaction. Patients may present with chronic iron-deficiency anemia due to chronic intestinal blood loss, chronic recurrent abdominal pain, fatigue, edema, or growth retardation. Extraintestinal manifestations such as Sicca syndrome, polyarthralgia, or Raynaud's phenomenon may also be observed.
Cryptomicrotia-brachydactyly-excess fingertip arch syndrome (ORPHA:1547)
A rare genetic, congenital malformation syndrome characterized by the combination bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns. There have been no further descriptions in the literature since 1988.
Cryptorchidism-arachnodactyly-intellectual disability syndrome (ORPHA:1548)
Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970.
Curly hair-acral keratoderma-caries syndrome (ORPHA:307766)
Curly hair-acral keratoderma-caries syndrome is an extremely rare ectodermal dysplasia syndrome characterized by premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger- and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age.
Curry-Jones syndrome (ORPHA:1553)
Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.
Cutaneous collagenous vasculopathy (ORPHA:280779)
Cutaneous collagenous vasculopathy (CCV) is a primary microangiopathy confined to the skin, characterized by multiple and widespread telangiectasias.
Epidemiology
It is a rare disorder with less than 20 cases reported in the literature to date.
Clinical description
Most patients present in adulthood with symmetrical telangiectasias appearing on the lower extremities and later progressing to the trunk and upper extremities.
Etiology
The etiology is unknown but CCV is thought to be associated with collagen abnormalities in the skin microvasculature. It can be distinguished from generalized essential telangiectasia (see this term) by characteristic histopathological features that reveal the presence of thickened vascular walls in CCV.

                            Last update: 
                            April 2013
Cutaneous larva migrans (ORPHA:423717)
Cutaneous larva migrans is a rare parasitic disease characterized by single or multiple, linear or serpiginous, erythematous, slightly elevated cutaneous tracks caused by the larval migration of various nematode species. Tracks are variable in length, generally a few millimeters wide and are frequently located on the feet (although any area of the body is possible). Patients typically present with severe, intractable pruritus, which, in some cases, may cause impaired concentration, loss of sleep, and mood disturbances.
Cutaneous mastocytoma (ORPHA:79455)
Cutaneous mastocytoma is a form of cutaneous mastocytosis (CM, see this term) generally characterized by the presence of a solitary or multiple hyperpigmented macules, plaques or nodules associated with abnormal accumulation of mast cells in the skin.
Epidemiology
Prevalence is unknown but mastocytomas are the second most frequent form of CM in children, accounting for 10-15% of cases.
Clinical description
Patients generally present during infancy, with most presenting in the first three months of life. However, rare cases of onset in adulthood have been reported. Mastocytomas usually appear as oval lesions with red-brown, pink or yellow pigmentation. The diameter varies from around 1-4 cm and the surface may be smooth or have a ''peau d'orange'' appearance. The trunk, face, neck and extremities are the most common sites of involvement. Patients with multiple mastocytomas (up to 5) have been reported with new lesions appearing at different locations up to two months after emergence of the initial lesion. Other skin manifestations may include blistering (most frequent during infancy), pruritus and urticaria. Stroking of the lesions results in Darier's sign and generalized flushing in some cases. Additional systemic symptoms are rarely associated with cutaneous mastocytomas but a few cases with fever, gastrointestinal disturbances (nausea, colic and diarrhea), headaches and asthma-like symptoms have been reported.
Etiology
Mutations in the KIT gene (4q11-q12) have been identified in some patients with CM, however, this mutation is rare in the pediatric population and the etiology and pathogenesis of cutaneous mastocytoma remains to be determined.
Diagnostic methods
Diagnosis is made on the basis of the clinical appearance of the lesions and the presence of Darier's sign. Histopathological examinations confirm the diagnosis by revealing a dense inﬁltrate of mast cells in the upper dermis.
Differential diagnosis
The differential diagnosis generally includes melanocytic nevi, xanthomas and juvenile xanthogranuloma (see this term).
Management and treatment
Treatment is symptomatic and includes oral administration of antihistamines, topical steroids and the use of hydrocolloid dressings to cover the lesions. Trigger factors (such as rubbing of the lesions and use of nonsteroidal anti-inflammatory drugs) should be avoided. Surgical excision provides a definitive cure for patients with alarming symptomatic lesions that do not respond to other forms of treatment and has been recommended as a first-line therapy in some cases.
Prognosis
The prognosis for patients with onset during infancy is good with regression of most lesions during childhood and complete resolution by adolescence. Rare cases of persisting mastocytoma in adulthood have been reported. Spontaneous resolution is less common in patients with adult-onset.

                            Last update: 
                            June 2013


                            - Expert reviewer(s): 
                            Pr A.P. [Arnold] ORANJE
Cutaneous mastocytosis (ORPHA:66646)
A rare group of mastocytosis diseases characterized by abnormal accumulation and proliferation of mast cells in the skin and including the three recognised forms: diffuse cutaneous mastocytosis, cutaneous mastocytoma and, the most common form, maculopapular cutaneous mastocytosis. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis.
Cutaneous photosensitivity-lethal colitis syndrome (ORPHA:2881)
A rare inflammatory bowel disease characterized by early cutaneous photosensitivity manifesting by sun-induced facial erythematous and vesicular lesions and severe recurent colitis which lead to untreatable diarrhea. There have been no further descriptions in the literature since 1991.
Cutaneous polyarteritis nodosa (ORPHA:439729)
Cutaneous polyarteritis nodosa (CPAN) is a rare limited form of polyarteritis nodosa (PAN, see this term), characterized by cutaneous vasculitis and mild and transient extracutaneous manifestations such as mild arthralgia, arthritis,myalgia, and rarely peripheral neuropathy.
Cutaneous pseudolymphoma (ORPHA:451607)
A rare acquired skin disease characterized by a benign, etiologically variable lymphoproliferative process of the skin mimicking cutaneous lymphoma clinically and/or histologically, while not fulfilling criteria for the diagnosis of a specific disease. Depending on the predominant cell type in the infiltrate, T- and B-cell pseudolymphomas can be distinguished.
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome (ORPHA:1555)
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, also known as Beare-Stevenson syndrome (BSS), is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia). Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (ORPHA:221145)
A rare, genetic, dermis elastic tissue disorder characterized by generalized cutis laxa associated with severe, usually early-onset, pulmonary emphysema, frequent and severe gastrointestinal and genitourinary involvement (i.e. bladder/intestine diverticula and/or tortuosity, gastrointestinal fragility, hydronephrosis), and mild cardiovascular involvement (typically limited to peripheral pulmonary artery stenosis only).
Cutis laxa-Marfanoid syndrome (ORPHA:171719)
A rare, genetic, developmental defect with connective tissue involvement syndrome characterized by neonatal cutis laxa, marfanoid habitus with arachnodactyly, pulmonary emphysema, cardiac anomalies, and diaphragmatic hernia. Mild contractures of the elbows, hips, and knees, with bilateral hip dislocation may also be associated. There have been no further descriptions in the literature since 1991.
Cutis marmorata telangiectatica congenita (ORPHA:1556)
Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.
Epidemiology
About 300 cases have been reported so far. Both genders seem equally affected.
Clinical description
In 90% of cases, the skin anomalies are observed at birth or shortly after birth, and may become more accentuated in the first few weeks. CMTC manifests with a localized or generalized reticulated, frequently asymmetrical, blue-violet colored vascular network in the skin. Skin changes may range from fine diffuse capillary anomalies without atrophy to atrophic or ulcerated larger purple reticulated bands. The cutaneous lesions most commonly occur on the legs, less commonly on the arms and trunk, and rarely involve the face and scalp. More than 50% of the CMTC patients present with associated cutaneous and/or extracutaneous anomalies (referred to as the macrocephaly-CMTC syndrome; see this term), most frequently body asymmetry (hypotrophy or hypertrophy of an involved extremity) and vascular lesions (capillary malformations). Other associated anomalies include neurological abnormalities (psychomotor retardation, seizures, and hypotonia), ocular anomalies (retinal detachment and congenital glaucoma; see this term), syndactyly, and macrocephaly. CMTC can also be associated with Adams-Oliver syndrome (see this term).
Etiology
The etiology remains unknown.
Diagnostic methods
Diagnosis is clinical. If the head is affected, ocular and neurological examination should be performed. Possible associated anomalies should be excluded by a careful clinical examination. Histopathologic findings are often nonspecific or show dilated capillaries and veins in the dermis.
Differential diagnosis
Differential diagnoses include Klippel-Trénaunay syndrome, Sturge-Weber syndrome, Bockenheimer syndrome, some port-wine stain capillary malformations, and macrocephaly-CMTC (see these terms). Persistence of skin changes with local warming distinguishes CMTC from physiological cutis marmorata.
Genetic counseling
CMTC occurs sporadically but a genetic basis has been proposed for some affected families.
Management and treatment
Treatment is usually not required. Laser therapy has been tried in several patients with persistent CMTC and variable outcomes have been reported.
Prognosis
Prognosis is generally good, with a tendency for clinical improvement during infancy or even complete resolution.

                            Last update: 
                            September 2009


                            - Expert reviewer(s): 
                            Pr Giovanna ZAMBRUNO
Cyanide poisoning (ORPHA:466670)
A rare intoxication characterized by onset of toxic manifestations within seconds to hours - depending on the route, duration, dosage, and source of exposure - after inhalation of volatile cyanides (especially from fire smoke), ingestion of cyanide (including use of certain medications) or contact with the skin or mucous membranes. In severe cases following inhalation, signs of hyperventilation appear within seconds or minutes and are followed by loss of consciousness with convulsions and ultimately cardiovascular collapse and/or respiratory arrest. Other clinical signs include dizziness, weakness, palpitations, and anxiety, followed by dyspnea, pulmonary edema, confusion, ataxia, and paralysis.
Cyanide-induced parkinsonism-dystonia (ORPHA:306692)
A rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum.
Cyclic neutropenia (ORPHA:2686)
A rare primary immunodeficiency characterized by regular oscillations in blood neutrophil counts from normal or subnormal levels to severe neutropenia, usually with a cycle length of about 21 days. Symptoms during the neutropenic phase include fever, mouth ulcers, but also pneumonia, and peritonitis, among others. Mode of inheritance is autosomal dominant.
Cyclosporiasis (ORPHA:210)
Cyclosporosis is a parasitic disease caused by Cyclospora cayetanensis, a recently discovered coccidia that was initially described in Peru and then in most intertropical zones. Infection occurs through ingestion of contaminated food or water and leads to abdominal pain, anorexia and diarrhoea, which may resolve spontaneously in immunocompetent individuals but may persist in a chronic form in immunocompromised subjects, leading to a decline in their general state of health.
Epidemiology
The prevalence is unknown.
Diagnostic methods
The diagnosis is made by parasitological examination of the stools.
Management and treatment
Treatment revolves around administration of cotrimoxazole.

                            Last update: 
                            December 2006


                            - Expert reviewer(s): 
                            Dr Luc PARIS