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Pollitt's syndrome

MedGen UID:
272036
Concept ID:
C1313961
Disease or Syndrome
Synonyms: Pollitt syndrome; Trichorrhexis nodosa syndrome; Trichothiodystrophy-neurocutaneous syndrome; Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
SNOMED CT: Pollitt's syndrome (238736006)
 
OMIM®: 275550

Definition

Trichothiodystrophy (TTD) is the term that Price et al. (1980, 1980) assigned to conditions of brittle hair with markedly reduced sulfur content. TTD can be associated with a spectrum of symptoms involving organs of ectodermal and neuroectodermal origin, including nail dystrophy, mental and growth retardation, ichthyosis, decreased fertility, and cutaneous photosensitivity, but not cancer (Bergmann and Egly, 2001). Approximately half of patients with TTD display photosensitivity (see TTDP, 601675); these cases are associated with defects in nucleotide excision repair. Sabinas brittle hair syndrome (211390) is another form of nonphotosensitive TTD. Trichorrhexis nodosa also occurs in Netherton syndrome (256500), argininosuccinic aciduria (207900), and Menkes disease (309400), [from OMIM]

Clinical features

Growth delay
MedGen UID:
500905
Concept ID:
CN001379
Finding
A deficiency or slowing down of growth pre- and postnatally.
Microcephaly
MedGen UID:
337454
Concept ID:
C1845868
Finding
Retrognathia
MedGen UID:
376696
Concept ID:
C1850067
Finding
Jerky ocular pursuit movements
MedGen UID:
342908
Concept ID:
C1853558
Finding
Nuclear cataract
MedGen UID:
451413
Concept ID:
CN116917
Finding
A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown.
Protruding ear
MedGen UID:
504438
Concept ID:
CN000384
Finding
Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective).
Babinski sign
MedGen UID:
19708
Concept ID:
C0034935
Finding
A reflex found in normal infants consisting of dorsiflexion of the HALLUX and abduction of the other TOES in response to cutaneous stimulation of the plantar surface of the FOOT. In adults, it is used as a diagnostic criterion, and if present is a NEUROLOGIC MANIFESTATION of dysfunction in the CENTRAL NERVOUS SYSTEM.
Areflexia
MedGen UID:
115943
Concept ID:
C0234146
Finding
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Microcephaly
MedGen UID:
337454
Concept ID:
C1845868
Finding
Spastic diplegia
MedGen UID:
504775
Concept ID:
CN001158
Finding
Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.
Partial agenesis of the corpus callosum
MedGen UID:
425037
Concept ID:
CN001226
Finding
A partial failure of the development of the corpus callosum.
Head titubation
MedGen UID:
505289
Concept ID:
CN002361
Finding
A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction.
Microcephaly
MedGen UID:
337454
Concept ID:
C1845868
Finding
Retrognathia
MedGen UID:
376696
Concept ID:
C1850067
Finding
Eczema
MedGen UID:
504663
Concept ID:
CN000902
Finding
Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding.
Cutaneous photosensitivity
MedGen UID:
428240
Concept ID:
CN000929
Finding
An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.
Concave nail
MedGen UID:
504866
Concept ID:
CN001455
Finding
The natural longitudinal (posterodistal) convex arch is not present or is inverted.
Small nail
MedGen UID:
504954
Concept ID:
CN001626
Finding
A nail that is diminished in length and width, i.e., underdeveloped nail.
Woolly hair
MedGen UID:
505162
Concept ID:
CN002017
Finding
Ichthyosis
MedGen UID:
429191
Concept ID:
CN007091
Finding
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
Trichorrhexis nodosa
MedGen UID:
506332
Concept ID:
CN008724
Finding
Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair.
Abnormality of metabolism/homeostasis
MedGen UID:
446429
Concept ID:
CN001754
Finding
Muscular hypotonia
MedGen UID:
504768
Concept ID:
CN001147
Finding
Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching.
Spastic diplegia
MedGen UID:
504775
Concept ID:
CN001158
Finding
Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.

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