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POIKTMP
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POIKTMP

Contributors: Catherine J. Wang, Susan Burgin MD, Paritosh Prasad MD
Other Resources UpToDate PubMed

Synopsis

Poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is an autosomal dominant syndrome due to a mutation in the FAB111B gene. POIKTMP is a rare disorder with few case reports in the literature. It was first identified in a South African family in 2006. Defining characteristics include early-onset poikiloderma, tendon contractures, diffuse myopathy, and interstitial pulmonary fibrosis.

Poikiloderma may evolve in 2 stages. During the early stage, which typically occurs before 6 months of age, patients present with a photoinduced erythema on the face. The second stage persists throughout life and is characterized by true poikiloderma (atrophy, telangiectasias, and patches of hyper- and hypopigmentation).

Muscle and tendon contractures are also seen in POIKTMP, particularly of the triceps surae. This classically occurs in childhood and can be seen as early as 2 years of age. Muscle weakness occurs in both proximal and distal muscles of the upper and lower extremities.

Patients can develop severe, life-threatening interstitial pulmonary fibrosis 3-4 years after pulmonary symptoms develop. Other features of POIKTMP include short stature, cataracts, pancreatic insufficiency, liver complications, and hematologic abnormalities.

Facial lesions can be cosmetically distressing, while pulmonary symptoms can be potentially fatal in adulthood.

For more information, see OMIM.

Codes

ICD10CM:
Q82.8 – Other specified congenital malformations of skin

SNOMEDCT:
771306007 – Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

Rothmund-Thomson syndrome (RTS):
  • Also presents with poikiloderma and sparse hair, eyebrows, and/or eyelashes.
  • May also have skeletal and/or dental abnormalities, short stature, cataracts, and increased risk for cancers, eg, osteosarcoma.
  • Unlike RTS, patients with POIKTMP may present with hypohidrosis and eczema / psoriasis-like lesions and blisters.
Other inherited poikilodermas:

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Management Pearls

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Therapy

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References

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Last Reviewed:11/07/2019
Last Updated:11/19/2019
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POIKTMP
POIKTMP (Infant Stage) : Face, Cheeks
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