[PAGID] Netherton syndrome

[dmvascon at usp.br]

Dear Dr. Jung

I am sending attached some photos of a patient with Netherton syndrome  
showing the hair and the skin lesions.

Dewton de Moraes Vasconcelos, MD, PhD
Department of Dermatology
University of Sao Paulo Medical School

Citando "Jung, Lawrence" <ljung at chsomaha.org>:


>

> I have recently seen a child with the clinical diagnosis of   

> "Netherton" but I am not too convinced.  If you can send picture of   

> what the hair looks like, that will be much appreciated.

>

> Larry Jung,

> Children's Hospital

> Omaha, NE

>

> -----Original Message-----

> From: pagid-bounces at list.clinimmsoc.org   

> [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Sergio   

> Rosenzweig

> Sent: Thursday, June 28, 2007 12:58 PM

> To: pagid at list.clinimmsoc.org

> Subject: Re: [PAGID] very sick baby in Australia

>

> Netherton syndrome is an AR disease (SPINK5, 5q32) characterized by   

> icthyosis,

> erythrodermia, hyper IgE and eosynophilia. Hepatosplenomegaly,   

> recurrent infections

> and combined immunedeficiency have also been described. Molecular   

> diagnosis is

> definitive and  light microscopy of the hair is also pathognomonic:   

> these pts present

> trichorrhexis nodosa due to trichorrhexis invaginata (it looks like   

> hair-into-hair

> intussusception...I can send  pictures if somebody wants!).

> Sergio

> PS Sorry for not being more clear the first time

>

> Sergio D. Rosenzweig, MD, PhD

> Servicio de Inmunologia

> Hospital Nacional de Pediatria "J. P. Garrahan"

> Buenos Aires, Argentina

> srosenzweig at garrahan.gov.ar

>

> On 28 Jun 2007 at 8:54, Conley, Mary-Ellen wrote:

>

>>

>> Hi Serigio,

>> Why don't you remind us of the most important features of Netherton  

>>  syndrome and tell us why

>> you think that it might be the diagnosis in this baby.

>> A gentle reminder to all:1) sign with your full name, your   

>> institution and your city so we know who

>> you are; 2) remember to change the subject title to fit your topic. thanks

>> Mary Ellen

>>

>>

>>

>>

>>

>> Mary Ellen Conley, MD

>> Department of Immunology

>> St. Jude Children's Research Hospital

>> 332 N. Lauderdale

>> Memphis, TN 38105-2794

>> FAX 901-495-3977

>> TEL 901-495-2576

>>

>>

>>

>>     From: pagid-bounces at list.clinimmsoc.org   

>> [mailto:pagid-bounces at list.clinimmsoc.org] On

>>     Behalf Of Sergio Rosenzweig

>>     Sent: Wednesday, June 27, 2007 7:40 PM

>>     To: pagid at list.clinimmsoc.org

>>     Subject: Re: [PAGID] Welcome to the "PAGID" mailing list

>>

>>     Joanne, I would evaluate Netherton syndrome. Hair examination   

>> under light microscopy

>>     (trichorrhexis invaginata) would help on the diagnosis.

>> Good luck with this difficult case,

>> Sergio

>>

>> Sergio D. Rosenzweig, MD, PhD

>> Servicio de Inmunologia

>> Hospital Nacional de Pediatria "J. P. Garrahan"

>> Buenos Aires, Argentina

>> srosenzweig at garrahan.gov.ar

>>

>> Dr Joanne Smart <joanne.smart at rch.org.au> wrote:

>>     Dear All,

>>

>>     Would welcome any suggestions about the following case   

>> (currently an inpatient at the

>>     Royal Children's Hospital Mebourne Australia):

>>

>>     Essentially this is a 6 week old female infant born to   

>> consanguineous Afghanistan parents who

>>     presents with presumed sepsis, diarrhea, hepatosplenomegaly,   

>> exfoliating dermatitis, profound

>>     eosinophillia and thrombocytopenia.

>>

>>     This occurs in the context of a sister, Karima, who died at the  

>>  age of 5 months in Kentucky with a

>>     similar presentation in December 2005. This child was a term   

>> baby with an unremarkable perinatal

>>     period. She first became unwell at 4 weeks with vomiting and   

>> mild diarrhoea, and was found to

>>     have an abnormal lumbar puncture result (?Citrobacter   

>> meningitis from discharge summary). She

>>     was treated with 1 week of IV antibiotics with improvement, but  

>>  ongoing vomiting on discharge.

>>     She was recalled back to the hospital after 1-2 days for a bone  

>>  marrow aspirate for an apparent

>>     blood abnormality, and the parents were reassured that this   

>> œwasn™t leukaemia. She was given

>>     nyastatin, metoclopramide, ranitidine and prednisolone on that occasion.

>>

>>     She continued to have episodic vomiting at home 1-2x/day and   

>> deteriorated at 6 weeks of age with

>>     increasing diarrhoea, facial oedema, anuria, left focal   

>> seizures and respiratory failure. She also had a

>>     dry, erythematous and exfoliating rash on presentation, which   

>> was later thought to look like

>>     ichthyosis by her physicians. Investigations at this stage   

>> revealed hypereosinophillia, anaemia,

>>     thrombocytopenia, hyponatremia, hypocalcemia and a severe   

>> metabolic acidosis. Aspergillous grew

>>     from her endotracheal tube, and skin & bone marrow biopsy   

>> revealed was apparently inconclusive.

>>     Further, CT brain revealed cerebellar atrophy and bilateral   

>> subdural hydromas. Her treatment

>>     included mechanical ventilation, phenobarbitone, amphotericin B  

>>  and caspofungin. Eventually with

>>     no improvement despite 6 weeks of mechanical ventilation we   

>> understand care was tragically

>>     withdrawn. The consideration at that stage was whether she   

>> could have Ommen™s, or an undefined

>>     hypereosinophllic syndrome.

>>

>>     Furthermore, there was apparently 14-16 maternal grandaunties   

>> and granduncles who passed away

>>     between the ages of 4 month-2 years from presentations with   

>> fever, diarrhoea and rashes. They

>>     however lived in a remote village with no medical care and it   

>> is uncertain how many in fact have

>>     treatment such as antimicrobials available.

>>

>>     Zohra herself was a term baby who was initially well until day   

>> 7 of life, when she presented with

>>     fevers, irritability, poor feeding and vomiting. Her   

>> inflammatory markers were raised (CRP 105,

>>     WCC 17, neutrophils 12) and her platelet count dropped to 70 on  

>>  day 5 of admission, but resolved

>>     to 188 on discharge. Lumbar puncture was attempted but   

>> unsuccessful. Stool cultures were

>>     negative. In total she received 6 days of IV flucloxacillin and  

>>  gentamicin, and 3 days of IV

>>     ceftraixone.

>>     She then was readmitted at 3 weeks, when she re-presented with   

>> fevers, rash and irritability, with no

>>     improvement having been treated with oral amoxicillin by her   

>> local doctor for 2 days. Her CSF at

>>     that stage revealed 10 polymorphs, 810 red blood cells and her   

>> CRP was elevated at 79. Cultures of

>>     the CSF, urine and blood were negative, and she received 4 days  

>>  of IV cefotaxime, penicillin and

>>     gentamicin before being discharged.

>>

>>     She re-presented at the age of 4 weeks with vomiting and   

>> diarrhea, but this time without fevers. No

>>     investigations were performed and she was treated for a   

>> presumed gastroenteritis with nasogastic

>>     rehydration. She was then transferred to Royal Children™s   

>> Hospital Neonatal Unit for ongoing

>>     weight loss. She had an initial severe metabolic acidosis (pH   

>> 7.09, HCO3- 3, base excess -24; anion

>>     gap 19; lactate 1.6 normal) and received fluid resuscitation   

>> and commencement of IV antibiotics.

>>     As an inpatient she progressively became unwell with   

>> development of an exfoliating dermatitis and

>>     temperature instability.

>>     Her investigations to date reveals:

>>     Full blood count

>> *   Normocytic anaemia (Hb 85-100g/L) “ presumably partly   

>> contributed by multiple blood

>>     tests taken and haemodilution from fluid resuscitation

>> *   Leucocytosis (WCC 33-50x109/L) with fluctuating neutrophillia   

>> (8-12x109/L), high band

>>     count (3.2-7x109/L) and normal lymphocyte counts (7-8x109/L)

>> *   Profound eosinophillia (15-20x109/L)

>> *   Progressive thrombocytopenia (from 500 to 51x109/L)

>>

>> *   Biochemistry

>> *   Progressive hyponatremia (142mmol/L on presentation, dropped to  

>>  124mmol/L) and

>>     hypokalemia (3mmol/L)

>> *   She was also hypocalcemic (1.75mmol/L) , hypomagnesemic (0.54mmol/L)

>>     hypophosphatemic (0.65mmol/L) and hypoabluminaemic (16g/L)

>> *   Liver function and renal function essentially normal

>> *   Raised stool and renal electrolytes, raising the question of   

>> possible renal tubular acidosis

>>

>> *   Cultures

>> *   CSF “ negative culture (0 polymorphs, 1 lymphocyte, 0 erythrocytes)

>> *   Urine “ negative culture

>> *   Stool “ negative culture

>>

>> *   Immune function

>> *   Antibodies

>> *   IgG 4.28 g/L

>> *   IgA <0.07 g/L

>> *   IgM 0.24 g/L

>>

>> *   Lymphocyte markers

>> *   Normal on 2 occasions

>> *   18/6/07 “ Lymphocyte count (4.39x109/L), CD3 74%, CD4 63%, CD8 13%, CD19

>>     24% and NK cells 3%

>> *   19/6/07 “ Lymphocyte count (6.8x109/L), CD3 77%, CD4 66%, CD8 12%, CD19

>>     18% and NK cells 3%.

>>

>> *   Lymphocyte proliferation to PHA

>> *   Done on 2 occasions

>> *   18/6/07 “ 15,986 to 50,657 (Control 39 to 57,241)

>> *   19/6/07 “ 7,595 to 17,291 (Control 17 to 56,281)

>>

>> *   Neutrophil oxidative burst “ normal

>> *   Pending “ Variable Number Tandem Repeats (VNTR) and HLA typing   

>> of Zohra and her

>>     parents.

>>

>> *   Other

>> *   Bone marrow aspirate “ normal apart from non-diagnostic high   

>> eosinophills

>> *   Urine aminoacids - normal

>>

>> *   Imaging

>> *   Abdominal US “ no organomegaly

>> *   Cranial ultrasound “ bilateral grade 1 supependymal haemorrhages

>>

>>

>>     Currently she is being managed with total parental nutrition   

>> and IV meropenem and vancomycin.

>>     She has been visited by multiple teams including rheumatology,   

>> infectious diseases, metabolic

>>     physicians, nephrology and gastroenterology. She is scheduled   

>> to have a liver, skin and muscle

>>     biopsy soon.

>>

>>

>>

>>     Zohra™s lymphocyte proliferation whilst not normally is not   

>> profoundly depressed as you would

>>     expect in a child with SCID. Lack of B cells make Ommen™s   

>> syndrome unlikely. We are

>>     considering the posibilites of maternally engrafted T cells   

>> with resultant graft-versus-host disease

>>     and are currnetly awaiting results of VNTR™s and HLA typing   

>> (which will also help rule out bare

>>     lymphocyte syndrome).

>>

>>

>>

>>

>>

>>

>>

>>     At 12:03 AM 28/06/2007, you wrote:

>>     Welcome to the PAGID at list.clinimmsoc.org mailing list!

>>

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>>

>>     Dr Joanne Smart BSc MBBS PhD FRACP

>> Clinical Immunologist

>> Department of Immunology

>> Royal Children's Hospital

>> Flemington Rd, Parkville

>> VICTORIA, AUSTRALIA 3052

>> PH: 61 3 9345 5733

>> FAX: 61 3 9345 5764

>> email: joanne.smart at rch.org.au

>>

>>

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>

>

>



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