Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 20

1.

Beaded hair

Individuals with monilethrix have normal hair at birth, but within the first few months of life develop fragile, brittle hair that tends to fracture and produce varying degrees of dystrophic alopecia. In the mildest forms, only the occipital regions of the scalp are involved; however, in severe forms the eyebrows, eyelashes, and secondary sexual hair may also be involved. Follicular hyperkeratosis with predilection for the scalp, nape of neck, and extensor surfaces of the upper arm and thighs is also a characteristic finding in these patients. Light microscopic examination is diagnostic and reveals elliptical nodes of normal thickness and intermittent constrictions (internodes) at which the hair easily breaks. There may be spontaneous improvement with time, especially during puberty and pregnancy, but the condition never resolves completely (summary by Zlotogorski et al., 2006). An autosomal recessive form of monilethrix-like congenital hypotrichosis (see 607903) is caused by mutation in the DSG4 gene (607892). The clinical picture of autosomal recessive monilethrix is more severe than the dominant form, with more extensive alopecia of the scalp, body, and limbs, and a papular rash involving the extremities and periumbilical region (Zlotogorski et al., 2006). The term monilethrix derives from the Latin word for necklace and the Greek for hair (Schweizer, 2006). [from OMIM]

MedGen UID:
108185
Concept ID:
C0546966
Congenital Abnormality
2.

Glutamic acid

A non-essential amino acid naturally occurring in the L-form. Glutamic acid is the most common excitatory neurotransmitter in the CENTRAL NERVOUS SYSTEM. [from MeSH]

MedGen UID:
29630
Concept ID:
C0061472
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
3.

Alopecia

MedGen UID:
7982
Concept ID:
C0002170
Disease or Syndrome; Finding
4.

Lysine

A nutritional supplement containing the biologically active L-isomer of the essential amino acid lysine, with potential anti-mucositis activity. Upon oral intake, L-lysine promotes healthy tissue function, growth and healing and improves the immune system. L-Lysine promotes calcium uptake, is essential for carnitine production and collagen formation. As collagen is essential for connective tissue maintenance, this agent may also help heal mucosal wounds. This may help decrease and prevent mucositis induced by radiation or chemotherapy. [from NCI]

MedGen UID:
7421
Concept ID:
C0024337
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
5.

Glutamine

A non-essential amino acid present abundantly throughout the body and is involved in many metabolic processes. It is synthesized from GLUTAMIC ACID and AMMONIA. It is the principal carrier of NITROGEN in the body and is an important energy source for many cells. [from MeSH]

MedGen UID:
5329
Concept ID:
C0017797
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
6.

Error occurred: cannot get document summary

ID:
1463257

7.

HELIX SYNDROME

MedGen UID:
1132668
Concept ID:
CN469329
Disease or Syndrome
8.

Fragility

MedGen UID:
549780
Concept ID:
C0302113
Cell or Molecular Dysfunction
9.

Autosomal dominant inheritance

MedGen UID:
141047
Concept ID:
C0443147
Genetic Function; Intellectual Product
10.

Unrelated

Not connected or associated e.g. by kinship. [from NCI]

MedGen UID:
99027
Concept ID:
C0445356
Finding
11.

Disorder of hair

A non-neoplastic or neoplastic disorder involving the hair. Representative examples include folliculitis, alopecia, tricholemmoma, and pilomatrical carcinoma. [from NCI]

MedGen UID:
42323
Concept ID:
C0018500
Disease or Syndrome
12.

Restriction Fragment Length Polymorphism

Variation occurring within a species in the length of DNA fragments generated by a specific endonuclease. Such variations are generated by mutations that create or abolish recognition sites for these enzymes. [from NCI]

MedGen UID:
20546
Concept ID:
C0035268
Cell or Molecular Dysfunction
13.

Pathological Conditions, Anatomical

An abnormal structural condition of the human body, usually macroscopic, that is common to a variety of different diseases. [from MeSH]

MedGen UID:
155708
Concept ID:
C0752135
Pathologic Function
14.

Pseudopelade

MedGen UID:
88640
Concept ID:
C0086873
Disease or Syndrome
15.

Skin and Connective Tissue Diseases

A collective term for diseases of the skin and its appendages and of connective tissue. [from MeSH]

MedGen UID:
59786
Concept ID:
C0175166
Disease or Syndrome
16.

Disorder of skin

A disorder involving lesions or eruptions of the skin, usually without inflammation. [from NCI]

MedGen UID:
20777
Concept ID:
C0037274
Disease or Syndrome
17.

Hypotrichosis

MedGen UID:
6993
Concept ID:
C0020678
Congenital Abnormality; Finding; Finding
18.

Error occurred: cannot get document summary

ID:
1463792

19.

Disorder of hair shaft

MedGen UID:
590438
Concept ID:
C0406469
Disease or Syndrome
20.

Hypotrichosis 7

Autosomal recessive hypotrichosis is a condition that affects hair growth. People with this condition have sparse hair (hypotrichosis) on the scalp beginning in infancy. This hair is usually coarse, dry, and tightly curled (often described as woolly hair). Scalp hair may also be lighter in color than expected and is fragile and easily broken. Affected individuals often cannot grow hair longer than a few inches. The eyebrows, eyelashes, and other body hair may be sparse as well. Over time, the hair problems can remain stable or progress to complete scalp hair loss (alopecia) and a decrease in body hair.Rarely, people with autosomal recessive hypotrichosis have skin problems affecting areas with sparse hair, such as redness (erythema), itchiness (pruritus), or missing patches of skin (erosions) on the scalp. In areas of poor hair growth, they may also develop bumps called hyperkeratotic follicular papules that develop around hair follicles, which are specialized structures in the skin where hair growth occurs.
[from GHR]

MedGen UID:
322969
Concept ID:
C1836672
Disease or Syndrome
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center