Tay Syndrome (Trichothiodystrophy)

Presented by  Amira Abdel Azim MD, MRCP (UK) and  Rasha El Barbary  MD Egypt (the case presented to us at AL Zahraa University hospital Egypt)

HPI:  An 11 years old girl presented with skin and hair problems dating since birth. She was deaf  (had previously been subjected to a failed trial of cochlear transplantation) and had severe eye problems causing blindness expect for light recognition of one eye. Mentality was normal in proportion to her sensory defect. There was no history of consanguinity nor history of similar conditions in the family.

O/E:  On examination the child was cooperative, alert and responsive to the directions of her mother. She was completely deaf, almost completely blind except for slight light recognition of one eye.

Her skin was very dry with fine scales dating since birth yet there was no history of collodion baby.  There were erythematous plaques on the flexures as well as perioral, she had mild ectropion and  palmoplantar keratoderma.

On examination of the scalp: she had scaly scalp, areas of hypotrichosis and yellowish dull lusterless brittle hair. There was loss of the eyelashes and eyebrows.

The child was physically not compatible with her age and was very thin. She also had skeletal abnormalities  in the form of  asymmetry of the lower limbs and syndactyly.

Clinical images: 

 Lab: no abnormality detected.

Therapy:  Topical  moisturizers and  keratolytics in the form of urea 10% cream was  given  for her scaly skin.

She has already been consulted by an ENT specialist, ophthalmologists and orthopedics.

Diagnosis and comments:  Our clinical diagnosis was icthyosis with brittle hair suggestive of Tay syndrome.

References:
1. Brittle hair and ichthyosis in the newborn: A case of Tay syndrome
Paula Karina N Gonzales-Carait, Marie Eleanore O Nicolas
Indian J Paediatric Dermatol. 2014:15;127-129
Tay syndrome is a rare autosomal recessive disorder characterized by brittle hair and congenital ichthyosis. It is one of the syndromes of trichothiodystrophy - a group of DNA repair disorders with wide range of phenotypic expressions unified by the presence of sulfur-deficient brittle hair.  Free Full Text Online  

2. Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay syndrome.

Lambert WC1, Gagna CE, Lambert MW. 

Adv Exp Med Biol. 2010;685:106-10.

Abstract

Nevi of Interest

In this post, we will present photos of interesting pigmented tumors.  Please feel free to send us interesting photos with brief captions.

7/25/2015
1) 15 y.o. girl with a 6 mm diameter congenital nevus on upper back.  Looks benign to me but has an interesting play of color.

2) 10 y.o. girl with a planaria shaped nevus on the right 4th toe.  Pigment globules likely represent growth.

3) 14 yo girl last seen 10 years ago.  Congenital nevus noted on l. upper back then, 9 mm diameter.  7.28.15 the lesion is 20 mm diameter. It has find terminal hairs.  There are two (?) satellite lesions near to it, the largest being 7 mm diameter.  The new lesion has a peculiar pattern dermatoscopically.  Still, I think it is benign.  I gave them a follow-up for 6 months.

A Diagnostic Dilemma

presented by Hamish Dunwoodie
Tracadie, New Brunswick

The patient is a 60 yo man who presented with a six months history of two asymptomatic erythematous nodules on the torso.  He has been in his usual state of health otherwise. No history of fever, chills or night sweats.

O/E:  There are two erythematous nodules located on the right abdomen and the left upper back.  They measure 3 - 4 cm in diameter. No other cutaneous findings.

Clinical Photos:

New Lesion 10.25,16 R, Upper Back)

Pathology:
A superficial and deep nodular and interstitial infiltrate of CD20 positive B-lymphocytes admixed with CD3 positive T-lymphocytes with slight preponderance of B-cells.  There is a scattering of CD30 positive lymphocyres.  There appears to be a Grenz zone.  Gene rearrangement studies are not indicative of either a clonal T or B cell lymphoproliferative disorder.

 

CD 3

CD 20

Lab: CBC, Chemistries, Serum protein electrophoresis all normal. IgG, IgM and IgG were all normal.

Diagnosis: The differential is between an atypical lymphoid infiltrate and a cutaneous lymphoma.  We are leaning towards the former.  Note: The last clinical photo was taken ~ 1 month after the others and shows progression.  We plan to excise this recurring tumor for help with diagnosis.

Questions:  

Should we treat? and if so how?

Should we follow with active surveillance?
Would any of you make a a more specific diagnosis?
Is any further testing indicated at this time?

Follow-up 2.3.16
The patient's lesions come and go.  All tests for systemic disease are negative.  New lesion (see photo) on left chest 2 cm in diameter seen today.  Will try to treat with clobetasol ointment.

10.16.16.  Old lesions have disappeared and new lesions develop.  Bo evidence of systemic disease.

Reference:
1. Atypical lymphoid proliferations: the pathologist's viewpoint. Hussein MR. Expert Rev Hematol. 2013 Apr;6(2):139-53. doi: 10.1586/ehm.13.4.

Abstract: Lymphoid proliferations are traditionally thought to be either benign conditions (reactive hyperplasia and lymphadenitis) or malignant lymphomas. However, not all lymphoid lesions at present can be precisely placed into one of these categories. 

2. Cutaneous B-cell lymphomas: 2015 update on diagnosis, risk-stratification, and management. Wilcox RA.  Am J Hematol. 2015 Jan;90(1):73-6. Free Full Text Online.