Get your health question answered instantly from our pool of 18000+ doctors from over 80 specialties
152 Doctors Online

By proceeding, I accept the Terms and Conditions

Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

HCM Blog Instant Access to Doctors
HCM BlogQuestions Answered
HCM Blog Satisfaction
Article Home Children's Health Zinsser Cole Engman Syndrome

Zinsser Cole Engman Syndrome

Publisher
1295 Views
Zinsser Cole Engman Syndrome is also known as Cole's syndrome, Cole Rauschkolb Toomey syndrome, Hoyeraal Hreidarsson Syndrome, Zinsser's syndrome, Zinsser Fanconi Cole- Rauschkolb Toomey syndrome, Engman's syndrome, Dyschromatosis Universalis Hereditaria, Dyskeratosis Congenita Syndrome, Dyskeratosis Congenita, Dyskeratosis Congenita (Autosomal Recessive), Dyskeratosis Congenita (Scoggins Type).

The syndrome is a rare, bone marrow failure syndrome characterized by three features:  reticulated skin hyperpigmentation, nail dystrophy, and oral leukoplakia. The syndrome is believed to be genetically heterogeneous X linked recessive, autosomal recessive and autosomal dominant subtypes. The syndrome has relation with telomerase dysfunction; there are various genes which encode for the telomerase complex proteins responsible for maintaining telomeres at the end of the chromosomes namely DKC1, TERT, TERC and NOP10. The various subtypes of the disease are result of the malfunction of one of the genes. It is a very rare disease. The disorder generally onset between 6-13 years of age. The disease shows sexual preponderance. Male sex is most commonly affected. The X linked inheritance pattern of Dyskeratosis Congenita is known as Zinsser Cole Engman Syndrome while autosomal dominant is sometimes referred as Dyskeratosis Congenita, Scoggins type. Previously it was believed that it is primarily a disease of skin which also involves nails and mouth but later it was recognized that almost all the cases in their later age develop bone marrow failure. Mortality rates of the persons who develop the disease are high. Most of the patients die either due to direct bone marrow failure or due to respiratory infections secondary to bone marrow failure. A few percentage population of the disease may develop carcinoma in their life.

Signs and Symptoms

  • Atrophy
  • Telangiectasia
  • Reddish appearance of face
  • Atrophic skin
  • Discolored skin spots
  • Dysonchia
  • Suppurative paronychia
  • Reticulate grayish skin pigmentation
  • Palmar keratosis
  • Sole keratosis
  • Alopecia of the scalp
  • Premature graying of the hair
  • Hyperhidrosis
  • Hyperkeratosis of the palms and soles
  • Loss of dermal ridges on fingers and toes
  • Nail dystrophy
  • Mucosal leukoplakia of buccal mucosa, tongue, and oropharynx
  • Dysphasia
  • Dysuria
  • Phimosis
  • Epiphora
  • Peripheral cytopenia
  • Pulmonary fibrosis
  • Squamous cell carcinoma of the skin
  • Mental retardation
  • Conjunctivitis
  • Blepharitides
  • Pterygium
  • Lacrimal duct stenosis resulting in epiphora
  • Mandibular hypoplasia
  • Osteoporosis
  • Avascular necrosis
  • Scoliosis
  • Esophageal webs
  • Hepatosplenomegaly
  • Cirrhosis

Diagnosis and Investigations

Diagnosis is established base on the clinical symptoms and the hierarchy of the symptoms. Some blood investigations may be performed based on the clinical symptoms to confirm the diagnosis and to plan for further management.

Treatment and Investigations

  • Androgens and granulocyte colony-stimulating factors may temporarily improve the blood count
  • Stem Cell transplantation is advisable in some cases but it involves a risk of fatal pulmonary complications
  • Radiations and pulmonary toxic drugs like busulfan are to be avoided in these patients